Term
|
Definition
• Unlikeotherinternalmedicinesubspecialties,the provider is not dealing with only one anatomic site or organ.
• Mostendocrinedisordersdonotpresentasasingle visible or palpable abnormality.
• Withtheexceptionofthethyroidandthetesticles,the glands cannot be felt.
• Physicaldiagnosesrelyonastuteobservationsbythe examiner, who, after a careful history, has some clue as to the diagnosis.
• Endocrinediagnosisinvolvesthesequenceofhistory, physical examination, laboratory, and radiologic evaluation. |
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Term
General
• Characteristic syndrome appearance |
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Definition
• Stature
– Short: Diabetes, Cushing’s, Hypothyroidism, GH insensitivity, GH deficiency
– Tall: GH excess, exposure to sex steroids, Marfan’s, acromegaly, etc.
– Penguinoid habitus of Klinefelter's
• Weight
– Body fat distribution gives important clues to the presence of adrenal steroid excess, while excessive wasting may imply adrenal steroid insufficiency or hyperthyroidism.
– A eunuchoid habitus suggests hypogonadism. |
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Term
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Definition
| • A hypogonadal male has a high-pitched voice, while an androgenized female may have a deeper voice than expected. |
|
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Term
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Definition
• Onycholysis: thyrotoxicosis
• Cyanotic: Wilson’s
• Splinter hemorrhages
• Decreased quantities of facial hair, perioral and periorbital wrinkling may be subtle signs of hypogonadism
• In the female, excessive hair, acne, male-pattern balding, and central scalp hair loss are signs of androgen excess of hypogonadism |
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Term
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Definition
• Oversized hands (acromegaly)
• Heat (hyperthyroid)
• Tremor (hyperthyroid)
• Palmar erythema (hyperthyroid)
• Pigmentation of palmar crease (Addison's, but normal in Asians, Blacks)
• 3rd, 5th metacarpals shortened (pseudohypoparathryoid)
• Pulse: rate (hyper-, hypothyroid), rhythm, character |
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Term
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Definition
• Blood pressure for hypertension (Cushing’s), hypotension (Addison's)
• Trousseau's sign (hypercalcemia):
– Occlude brachial artery for 3 min using BP cuff.
– See if carpal spasm is induced.
• Muscle weakness (hypothyroid, Cushing's) |
|
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Term
|
Definition
• Acanthosis nigricans (acromegaly)
• Axillary hair loss (hypopituitary)
• Skin tags (acromegaly) |
|
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Term
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Definition
• Syndrome facies
• Acne, oily skin (Cushing's)
• Hirsutism (panhypopituitary)
• Chin enlargement (acromegaly) |
|
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Term
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Definition
• Exophthalmos (hyperthyroid)
• Eye fundus:
• DM: range from subtle vascular anomalies to microaneurysms, hemorrhages, exudates, retinal buckling or detachment, and proliferative changes
• Acromegaly-diabetic retinopathy
• Optic atrophy manifested by disk pallor suggests a pituitary tumor |
|
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Term
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Definition
• Buccal pigmentation (Addison's)
• Tongue enlargement (acromegaly) |
|
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Term
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Definition
• Inspect buffalo hump (Cushing's)
• Palpate supraclavicular fat pads (Cushing's) • Inspect webbed neck (Turner's) |
|
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Term
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Definition
• Inspect for goiter
• Palpate thyroid from behind |
|
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Term
|
Definition
• Pigmented nipple (Addison's)
• Loss, gain of chest hair
• Male gynecomastia (Cushing's)
• Reduced female breast size (panhypopituitary)
• Galactorrhea should lead one to assess for other pituitary disturbances
• Gynecomastia in the male may have important clinical significance ranging from hypogonadism to malignancy. |
|
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Term
|
Definition
• Patient lies down, one pillow needed under head (Cushing’s)
• Purple striae (Cushing's)
• Disproportionate abdominal fat (Cushing's) |
|
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Term
|
Definition
• Atrophy
• Virilization (the development of male physical characteristics (such as muscle bulk, body hair, and deep voice) in a female or precociously in a boy, typically as a result of excess androgen production) |
|
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Term
|
Definition
• Peripheral neuropathy (DM).
• Toenails and foot showing same symptoms as fingernails and arms
• Shiny thin skin with absence of hair on the lower extremities and absent pulses in the feet suggest the presence of macrovascular or microvascular disease of diabetes mellitus. |
|
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Term
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Definition
• The absence of ankle jerks, vibratory sensation, pinprick or light touch, abnormalities in joint position sense, and muscle atrophy in a diabetic indicates diabetic neuropathy.
• Proximal muscle weakness is common to other endocrine
disorders, such as hyperthyroidism and Cushing's disease. |
|
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Term
|
Definition
• System of ductless glands that secrete hormones
– Hormones are messenger molecules
– Circulate in blood
– Act on distant target cells
– Target cells respond to the hormones for which they have receptors to
• The endocrine's feedback system helps control the balance of hormones in the bloodstream.
• If your body has too much or too little of a certain hormone, the feedback system signals the proper gland or glands to correct the problem.
• A hormone imbalance may occur if this feedback system has trouble keeping the right level of hormones in the bloodstream, or if your body doesn't clear them out of the bloodstream properly |
|
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Term
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Definition
pituitary gland, pineal gland, thyroid gland, parathyroid glands, adrenal glands
• Endocrine cells in other organs: pancreas, thymus, gonads, hypothalamus |
|
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Term
| Increased or decreased levels of endocrine hormone may be caused by: |
|
Definition
– A problem with the endocrine feedback system
– Disease
– Failure of a gland to stimulate another gland to release hormones (for example, a problem with the hypothalamus can disrupt hormone production in the pituitary gland)
– A genetic disorder, such as multiple endocrine neoplasia (MEN) or congenital hypothyroidism
– Infection
– Injury to an endocrine gland
– Tumor of an endocrine gland |
|
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Term
|
Definition
• Controlstheanteriorpituitaryhormonereleasewhich in turn controls the secretion by the thyroid gland, the adrenal cortex and gonads
• Releasinghormones: – TRH turns on TSH
– CRH turns on ACTH
– GnRH turns on FSH and LH – PRF turns on PRL
– GHRH turns on GH
• Inhibitinghormones
– PIF turns off PRL
– GH inhibiting hormone turns off GH |
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Term
| Anterior Pituitary Hormones |
|
Definition
• TSH stimulates the thyroid to produce thyroid hormone
• ACTH stimulates the adrenal cortex to produce corticosteroids: aldosterone and cortisol
• FSH stimulates follicle growth and ovarian and estrogen production; stimulates sperm production and androgen binding protein
• LH plays a role in ovulation and the growth of the corpus luteum; stimulates androgen secretion by interstitial cells in the testes |
|
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Term
| Anterior and Intermediate Pituitary Hormones |
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Definition
• GH also known as somatotrophic hormone stimulates growth of skeletal epiphyseal plates and body to synthesize protein
• PRL stimulates mammary glands in breast to make milk
• MSH stimulates melanocytes; may increase mental alertness |
|
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Term
|
Definition
• ADH (vasopressin) stimulates the kidneys to reclaim more water from urine, raising blood pressure
• Oxytocin prompts contraction of smooth muscle in the reproductive tracts; in females imitating labor and ejection of milk from breasts |
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Term
|
Definition
• Pituitary
– Gigantism: too much GH in childhood – Acromegaly: too much GH
– Dwarfism: too little GH in childhood
– Diabetes insipidus: too much ADH
• Pancreas
– Diabetes mellitus: one type of insulin (not enough)
• Thyroid
– Hyperthyroidism – Hypothyroidism
• Adrenal Gland
– Cushing’s syndrome: usually caused by an ACTH-secreting pituitary tumor, rarely by tumor of adrenal cortex, iatrogenic
– Addison’s disease: hypo-secretion of adrenal cortex |
|
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Term
|
Definition
• Sellar masses usually present with neurologic symptoms, hormonal abnormalities, or as an incidental finding on magnetic resonance imaging (MRI).
• Pituitary adenomas are the most common cause of sellar masses, but other causes include: benign tumors, such as craniopharyngioma and meningioma
• Physiologic enlargement of the pituitary, most commonly during pregnancy, but also in primary hypothyroidism and primary hypogonadism.
• Malignant tumors, both primary (germ cell tumor, chordoma, primary central nervous system [CNS] lymphoma) and metastatic (most commonly from breast and lung cancer).
• Sellar masses may also be due to a cyst, abscess, or arteriovenous fistula of the cavernous sinus
• Hypophysitis, especially lymphocytic (lymphocytic infiltration of the pituitary), occurs most commonly in postpartum women, but can also be seen in women at other times, and rarely in men, but increasingly due to anti-cytotoxic T-lymphocyte antigen (CTLA)-4 treatment of malignancies
• Management: MRI, measurement of pituitary hormonal function
• Hormonal hypersecretion is caused only by pituitary adenomas
• The extent of the evaluation in a patient with an incidentally discovered intrasellar MRI signal abnormality (pituitary incidentaloma) depends upon its size
• Hormonalhyposecretionmaybecausedbyany hypothalamic or pituitary lesion and therefore usually has no value in the differential diagnosis of a sellar mass.
• Oneexceptiontothisstatementisthatthespontaneous development of central diabetes insipidus indicates that the lesion affects the hypothalamus or the stalk and is therefore not a pituitary lesion
• Measurementsofserumprolactin(lactotroph adenomas), insulin-like growth factor-1 (IGF-1) (somatotroph adenomas), and 24-hour urinary free cortisol (corticotroph adenomas).
• Additional endocrine testing is needed when a gonadotroph or thyrotroph adenoma is suspected LH, FSH, total or free thyroxine [T4], and TSH
• If it is smaller than 10 mm and the patient has no clinical findings of pituitary dysfunction, we recommend measuring only the serum prolactin concentration
• A prolactinoma is a benign noncancerous tumor of the pituitary gland that produces a hormone called prolactin. Prolactinomas are the most common type of pituitary tumor. Symptoms of prolactinoma are caused by hyperprolactinemia—too much prolactin in the blood—or by pressure of the tumor on surrounding tissues.
• Prolactin stimulates the breast to produce milk during pregnancy. After giving birth, a mother’s prolactin levels fall unless she breastfeeds her infant. Each time the baby nurses, prolactin levels rise to maintain milk production. |
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Term
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Definition
• Aclinicalsyndromethatresultsinexcessivesecretionof growth hormone (GH)
• Mostcommoncauseisasomatotroph(GHsecreting) anterior pituitary adenoma
• Onsetisinsidiousandprogressionisslow
• Symptoms:stimulationofgrowthofmanytissues,such as skin, connective tissue, cartilage, bone, viscera, and many epithelial tissues; menstrual dysfunction, with or without galactorrhea, and some have hot flashes and vaginal atrophy as a result of estrogen deficiency; Men may have erectile dysfunction, loss of libido, decreased facial hair growth and a decrease in testicular volume, hypogonadism
• Somepatientswithacromegalyandlargetumorshave symptoms due to compressive effects of the tumor, such as headache, visual field defects (classically bitemporal hemianopsia), and cranial nerve palsies
• PEfindings:acralandsofttissueovergrowth,skin thickening, enlarged jaw (macrognathia) and enlarged, swollen hands and feet, facial features become coarse, with enlargement of the nose and frontal bones as well as the jaw, and the teeth become spread apart, macroglossia, deepening of the voice, and paresthesias of the hands, carpal tunnel syndrome
• Synovial tissue and cartilage enlarge, causing hypertrophic arthropathy of the knees, ankles, hips, spine, and other joints. Joint symptoms are a common presenting feature of the disease, and back pain (and kyphosis) is common
• Cardiovascular abnormalities include hypertension, left ventricular hypertrophy, and cardiomyopathy
• Labs: high serum GH and insulin-like growth factor-1 IGF-1, hyperinsulinism, insulin resistance, overt diabetes, hyperprolactenemia,
• Increased risk for colon polyps, colon cancer, and other tumors
• Other systemic complications include cardiovascular disease, sleep apnea, metabolic disorders, and colon neoplasia
• For patients with a microadenoma, a macroadenoma that appears to be fully resectable, or a macroadenoma threatening or impairing vision-transsphenoidal surgery performed by a neurosurgeon
• If transsphenoidal surgery results in normalization of serum insulin-like growth factor-1 (IGF-1) concentration, continue to monitor levels
• With an adenoma that does not appear to be fully resectable and for patients whose risk of surgery is great or who choose not to have surgery-primary therapy with a long-acting somatostatin analog
• If adenoma size increases or GH/IGF-1 hypersecretion persists despite medical therapy (somatostatin analog plus pegvisomant), we suggest radiation therapy (RT) or repeat surgery |
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Term
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Definition
• GH excess that occurs before fusion of the epiphyseal growth plates in a child or adolescent is called pituitary gigantism.
• Rare disorder
• Syndromes in which gigantism is a well-recognized feature include McCune Albright Syndrome (MAS); multiple endocrine neoplasia type 1 (MEN1); multiple endocrine neoplasia type 4 (MEN4); Carney complex; and the paraganglioma, pheochromocytoma and pituitary adenoma association known as 3PA; neurofibromatosis and optic nerve tumors
• Unlike acromegaly where it is slow, gigantism is dramatic linear growth acceleration in children, macrocephaly, obesity
• PE findings: large hands and feet, coarsening of the facial features with frontal bossing and prognathism (projection of the jaw), and excessive sweating; amenorrhea with or without galactorrhea in girls
• Labs: serum concentrations of IGF-I, insulin-like growth factor binding protein 3 (IGFBP-3), and prolactin, bone age radiograph, thyroid function tests, sex steroid hormone concentrations, and a karyotype; If the results suggest GH excess, a GH suppression test is used to make the definitive diagnosis of pituitary gigantism
• Objective: MRI hypothalamus and pituitary should be performed to look for a pituitary adenoma or diffuse pituitary hyperplasia
• Management: surgery, radiation, and pharmacologic therapy. Transsphenoidal surgery is the treatment of choice for discrete pituitary microadenomas or macroadenomas. |
|
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Term
| Growth Hormone Deficiency |
|
Definition
• If it’s present at birth, it’s
called congenital growth hormone deficiency.
• One can also develop growth hormone deficiency during childhood or as an adult as a result of a trauma, such as a severe brain injury, or another medical condition.
• When children or adults acquire this condition, it’s called acquired growth hormone deficiency |
|
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Term
Growth Hormone Deficiency
• Causes: |
|
Definition
– A severe head injury
– A brain tumor or a history of pituitary tumors
– An infection
– Brain surgery
– Hormonal problems related to the hypothalamus gland or pituitary gland
– Poor blood supply to the pituitary gland
– Radiation treatments to brain |
|
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Term
Growth Hormone Deficiency
• Symptoms in children: |
|
Definition
• Usually defined as an adult height of less than 4 feet 10 inches
• Slow rate of growth, usually less than 2inches per year. The slow growth may not appear until a child is 2 or 3 years old
• Child's face may appear younger than children who are the same age
• Delayed puberty—but sometimes a child won't go through puberty
• Increased fat around the face and stomach
• Mild to moderate chubbiness
• Slow tooth development
• Sluggish hair growth |
|
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Term
| Growth Hormone Deficiency: Symptoms in Adults |
|
Definition
• Anxiety and/or depression
• Baldness (in men)
• Decrease in sexual function and interest
• Decreased muscle mass and strength
• Difficult to concentration and lack of memory
• Dry, thin skin
• Elevated triglyceride levels
• Fatigue and/or tiredness
• Heart problems
• High levels of LDL (the "bad") cholesterol
• Insulin resistance
• Lower tolerance to exercise
• Reduced bone density, making you more susceptible to developing osteoporosis
• Sensitivity to heat and cold
• Very low energy levels
• Weight gain, especially around the waist |
|
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Term
| Growth Hormone Deficiency |
|
Definition
• Management: GH levels, insulin levels, IGF-I and IGFBP-3
• DXA scan, MRI
• Treatment: GH, PT, orthotics, school psychologists |
|
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Term
|
Definition
• The condition occurs if the pituitary gland makes too little growth hormone
• Normally, when the hypothalamus releases growth hormone- releasing hormone (GHRH), the anterior pituitary is stimulated to release GH
• GH then acts on the liver and other tissues and stimulates them to secrete insulin-like growth factor-1 (IGF-1).
• IGF-1 directly promotes the development of bone and muscle,
causing bones to grow in length, and muscles to increase protein synthesis (make more protein) |
|
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Term
|
Definition
• Two disorders, Achondroplasia and growth hormone deficiency (also known as pituitary dwarfism), are responsible for the majority of dwarfism cases
• Achondroplasia is an autosomal dominant disorder caused by the presence of a faulty allele in a person's genome
• Growth hormone deficiency has no single definite cause. It can be caused by mutations of specific genes, damage to the pituitary gland, Turner’s Syndrome, poor nutrition, or even stress (leading to psychogenic dwarfism)
• Other causes of dwarfism include spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, primordial dwarfism, Turner syndrome, and osteogenesis imperfecta (OI) and hypothyroidism
• Primordial Dwarfism is a rare form of dwarfism that results in a smaller body size in all stages of life beginning from before birth.
• The major difference between Primordial Dwarfism and Dwarfism is that those with Primordial Dwarfism have bones and organs of that are proportionally smaller than in an average person
• Those diagnosed with Primordial Dwarfism usually don’t live past age 30 |
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Term
|
Definition
• Diabetes insipidus (DI) is defined as the passage of large volumes (>3 L/24 hr) of dilute urine (< 300 mOsm/kg). It has the following 2 major forms:
• Central (neurogenic, pituitary, or neurohypophyseal) DI, characterized by decreased secretion of antidiuretic hormone (ADH; also referred to as arginine vasopressin [AVP])
• Nephrogenic DI, characterized by decreased ability to concentrate urine because of resistance to ADH action in the kidney
• The most common form is central DI after trauma or surgery to the region of the pituitary and hypothalamus, which may exhibit 1 of 3 patterns:
– Transient
– Permanent
– Triphasic(observedmoreoften clinically)
• Signs: Polyuria: The daily urine volume is relatively constant for each patient but is highly variable between patients (3-20 L), Polydipsia & Nocturia
• Signs in Infants: Crying, irritability, growth retardation, hyperthermia & weight loss
• Signs in Children: Enuresis, anorexia, linear growth defects, fatigability
• IftheconditionthatcausedDI also damaged the anterior pituitary or hypothalamic centers that produce releasing factors, patients may present with the following: Excessive fatigue, diminished libido or erectile dysfunction, headache, dry skin & hair loss
• Physicalfindings: hydronephrosis, pain radiating to the testicle or genital area, bladder enlargement, dehydration |
|
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Term
Diabetes Insipidus
• Objective tests: |
|
Definition
• A 24-hour urine collection for determination of urine volume
• Serum electrolyte concentrations and glucose level
• Urinary specific gravity
• Simultaneous plasma and urinary osmolality
• Plasma ADH level
• Additional studies that may be indicated include the following:
• Water deprivation (Miller-Moses) test to ensure adequate dehydration and maximal stimulation of ADH for diagnosis
• Pituitary studies, including magnetic resonance imaging (MRI) and measurement of circulating pituitary hormones other than ADH |
|
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Term
Diabetes Insipidus
• Management: |
|
Definition
• Most patients with DI can drink enough fluid to replace their urine losses. When oral intake is inadequate and hypernatremia is present, provide fluid replacement as follows:
• Give dextrose and water or an intravenous fluid that is hypo-osmolar with respect to the patient’s serum; do not administer sterile water without dextrose IV
• Administer fluids at a rate no greater than 500-750 mL/hr; aim at reducing serum sodium by approximately 0.5 mmol/L (0.5 mEq/L) every hour
• Pharmacologic therapeutic options include the following:
• Desmopressin (drug of choice for central DI )
• Synthetic vasopressin
• Chlorpropamide
• Carbamazepine (rarely used; employed only when all other measures prove unsatisfactory)
• Clofibrate (no longer on the US market)
• Thiazides
• Nonsteroidal anti-inflammatory drugs (NSAIDs), such as indomethacin (may be used in nephrogenic DI, but only when no better options exist) |
|
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Term
|
Definition
• One of the most common chronic diseases in childhood
• Caused by insulin deficiency resulting from the destruction of insulin-producing pancreatic beta cells
• PE: monitor height and weight; BP for HTN; pubertal assessment-insulin requirements increase in early puberty; thyroid-to screen for autoimmune hypothyroidism; skin-for any lipohypertrophy or atrophy which can alter insulin absorption and check for any injection site irritation; eyes-for diabetic retinopathy; extremities-foot exam, neuropathy |
|
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Term
|
Definition
| A1C; Urine albumin-to-creatinine ratio in a spot specimen, to screen for nephropathy; celiac disease screening-the majority of cases of celiac disease are diagnosed within the first five years after the diabetes is diagnosed; TSH- for autoimmune hypothyroid; lipid profile-eval for obesity and family history of early CV disease |
|
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Term
Diabetes Type I
• Referrals |
|
Definition
| dietitian, mental health screening, dilated ophthalmologic evaluation for retinopathy, dentist-as diabetics are at increased risk for gum disease; multidisciplinary team approach |
|
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Term
Diabetes Type I
• Management |
|
Definition
| we must teach how to maintain a daily schedule and record of blood glucose test results, insulin administration, and the timing and carbohydrate content of meals and snacks; blood glucose testing; insulin administration; monitoring for signs of hypoglycemia; measuring blood or urine ketones; finger-stick testing-school; nutrition; exercise; psychosocial issues; parental and caregiver support; immunizations |
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Term
|
Definition
• Type 2 diabetes accounts for over 90 percent of cases of diabetes in the United States, Canada, and Europe
• Patients with newly diagnosed diabetes require a history and physical examination to assess the characteristics of onset of diabetes (asymptomatic laboratory finding or symptomatic polyuria and polydipsia), nutrition and weight history, physical activity, cardiovascular risk factors, history of diabetes-related complications, hypoglycemic episodes, diabetic ketoacidosis (DKA) frequency (type 1 diabetes only), and current management.
• Ahistoryandphysicalshouldbeobtained2-3timesa year to obtain information on nutrition, physical activity, management of diabetes and cardiovascular risk factors, and diabetes-related complications
• VisuallyinspectfeetandBPeachvisitandreferfora dilated eye exam annually
• MeasureA1CeverythreemonthsifA1Cisnotinthe goal range and therapy requires adjustment
• Everysixmonthsinpatientswithstableglycemic control who are meeting A1C goals of <7
• Measurefastinglipidsandurinealbumin-to-creatinine ratio annually.
• As a provider we want to make sure we intervene on diabetes related complications, atherosclerosis, MI, stroke, retinopathy, nephropathy, and neuropathy, LE amputation, end stage renal disease
• Routine eye exam: patients are at increased risk for visual loss, cataracts, and glaucoma and retinopathy
• Diabetic retinopathy: serial exams; general measures to reduce risk and progression include good glycemic & BP control
• Routine food exam: each visit we will need to inspect for nail care, poorly fitting shoes, fungal infections, calluses. This will reduce ulcers and risk of amputation. Examine in between toes and under metatarsal heads. Assess skin integrity, note any bony deformities, joint mobility, and gait and balance should also be assessed
• ScreenforPADbyaskingabout claudication and assessing pedal pulses and for dependent rubor
• PerformABI’s
• Testforprotectivesensationusing a Semmes-Weinstein 5.07 monofilament at specific sites to note for loss of sensation in the foot, assess for vibration using a 128-Hz tuning fork, pinprick sensation, ankle reflexes or vibration perception threshold with a biothesiometer |
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Term
Diabetes Type II
• Counseling |
|
Definition
avoid going barefoot, test water temperature before stepping into a bath, trim toenails to the shape of the toe, remove sharp edges with a nail file, do not cut cuticle, wash and check feet daily, shoes should be snug but not tight, socks should fit and be changed daily
• Refer patients to podiatrists or diabetic foot clinics
• Screen for urinary albumin excretion; measurement of the albumin-to-creatinine ratio; increased urinary protein excretion is the earliest clinical finding of diabetic nephropathy; urine dipstick is insensitive; |
|
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Term
Diabetes Type II
• The normal rate of albumin |
|
Definition
excretion is less than 30 mg/day (20 mcg/min); persistent values between 30 and 300 mg/day (20 to
200 mcg/min) in a patient with diabetes is called persistent albuminuria or moderately increased albuminuria (historically called microalbuminuria) and is usually indicative of diabetic nephropathy (unless there is some other coexistent renal disease)
• ACE or ARB recommended treatment |
|
|
Term
Diabetes Type II
• Screening for |
|
Definition
coronaryheartdisease:performan annual assessment of risk criteria (blood pressure, fasting lipid profile, smoking history) to identify patients at high risk for coronary heart disease (CHD) who might benefit from interventions such as aspirin, ACE inhibitors, and statin therapy.
• Recommendexerciseregimen
• Advisetostopsmoking
• MonitorcholesterolandadviseonuseofASA(75- 162mg/day)
• Performanexercisetolerancetestwhoareat increased risk for CAD |
|
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Term
|
Definition
• Adults with type 2 diabetes are at risk for comorbidities other than obesity, hypertension, and dyslipidemia.
• These disorders, which may be present at diagnosis or may develop over time, include hearing impairment, sleep apnea, fatty liver disease, periodontal disease, cognitive impairment, depression, anxiety, and fractures
• For patients with signs or symptoms of these conditions, additional assessment is warranted.
• Annual examination by a dentist is recommended in both dentate and nondentate diabetic patients |
|
|
Term
Diabetes Type II
• Some studies suggest
-treatment |
|
Definition
an increased risk of certain cancers (liver, pancreas,
endometrium, colon/rectum, breast, bladder) in patients with type 2 diabetes, possibly related to the coincident obesity
• Management/Nonpharmacological: advise diet, exercise and weight reduction
• Management/Pharmacological: insulin sensitizers (metformin, thiazolidinediones), glucosidase inhibitors, glucagon-like peptide-1 (GLP-1) receptor agonists, sodium-glucose co-transporter 2 inhibitors, and dipeptidyl peptidase-4 (DPP-4) inhibitors, insulin secretagogue
(eg, glyburide, glipizide, glimepiride, repaglinide, nateglini de) injectable agents including insulin |
|
|
Term
Diabetes Type II
• Risk factor reduction |
|
Definition
reduced dietary fat, light to moderate exercise, smoking cessation, tight glycemic control (target A1C <6.5 percent with intensive therapy), tight blood pressure control (target <140/85 mmHg for most of the study and <130/80 mmHg for the last two years), angiotensin-converting enzyme (ACE) inhibitor therapy regardless of blood pressure, lipid-lowering therapy (target total cholesterol
<190 mg/dL [4.9 mmol/L] for most of the study and <175 mg/dL [4.5 mmol/L] for the last two years; target fasting serum triglyceride <150 mg/dL [1.7 mmol/L]), Aspirin, Vitamin C, vitamin D, folate, and chrome picolinate
• Vaccinations, contraception and pregnancy planning should be addressed |
|
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Term
|
Definition
• In patients without diabetes, hypoglycemia is a clinical syndrome with diverse causes in which low plasma glucose concentrations lead to symptoms and signs, and there is resolution of the symptoms/signs when the plasma glucose concentration is raised
• In the patient without diabetes, the definition of hypoglycemia is based upon the presence of Whipple's triad: symptoms, signs, or both consistent with hypoglycemia; a low plasma glucose concentration at the time of symptoms; and resolution of those signs and symptoms after raising the plasma glucose concentration. |
|
|
Term
| Inpatientswithdiabetes,hypoglycemiaisdefined as |
|
Definition
all episodes of an abnormally low plasma glucose concentration (with or without symptoms) that expose the individual to harm
• Inpatientswithdiabetes,thehypoglycemia symptoms and signs occur as a consequence of therapy.
• Theprimarytaskinapatientwithoutdiabetesisto make an accurate diagnosis, whereas the primary task in a patient with diabetes is to alter therapy in an attempt to minimize or eliminate hypoglycemia. |
|
|
Term
| In the patient without diabetes, the definition of hypoglycemia is based upon |
|
Definition
| the presence of Whipple's triad: symptoms, signs, or both consistent with hypoglycemia; a low plasma glucose concentration at the time of symptoms; and resolution of those signs and symptoms after raising the plasma glucose concentration. |
|
|
Term
| hypoglycemia and type 1 vs type 2 diabetes |
|
Definition
• Hypoglycemia is common in type 1 diabetes, especially in patients receiving intensive insulin therapy, in whom the risk of severe hypoglycemia is increased more than threefold
• Hypoglycemia is less frequent in type 2 diabetes than it is in type 1 |
|
|
Term
|
Definition
neurogenic (autonomic) and neuroglycopenic symptoms
• The neurogenic symptoms include tremor, palpitations, and anxiety/arousal (catecholamine- mediated, adrenergic) and sweating, hunger, and paresthesias (acetylcholine-mediated, cholinergic). They are largely caused by sympathetic neural, rather than adrenomedullary, activation
• The neuroglycopenic symptoms include cognitive impairment, behavioral changes, psychomotor abnormalities, and, at lower plasma glucose concentrations, seizure and coma |
|
|
Term
|
Definition
| diaphoresis and pallor are common signs of hypoglycemia; neuroglycopenic manifestations (cognitive impairment, behavioral changes, psychomotor abnormalities) are often observable. Occasionally, transient neurologic deficits occur. Permanent neurologic damage is rare and, should it occur, it would be more likely in a patient with diabetes and prolonged severe hypoglycemia |
|
|
Term
Hypoglycemia
• The onset of symptoms of hypoglycemia |
|
Definition
normally occur at glucose levels of 50 to 55 mg/dL (2.8 to 3.0 mmol/L). The lower limit of the normal fasting plasma glucose value is typically
70 mg/dL (3.9 mmol/L). In nondiabetic persons, the secretion of insulin decreases as glucose levels decline within the physiological range, and the release of counterregulatory hormones, glucagon and epinephrine, increases when the glucose concentration falls to 65 to 70 mg/dL (3.6 to 3.9 mmol/L). Growth hormone and cortisol secretion also increase at similar plasma glucose concentrations. These hormonal responses begin well before the onset of symptoms of hypoglycemia. It is important to note, however, that the hypoglycemic thresholds are variable. The glycemic thresholds for these responses shift to higher plasma glucose concentrations in patients with poorly controlled diabetes and to lower plasma glucose concentrations in patients with repeated episodes of hypoglycemia, such as may be caused by intensive therapy of diabetes or an insulinoma |
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Term
| Recognize that the patient's symptoms could be caused by hypoglycemia then |
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Definition
• Document that the patient's plasma glucose concentration is low when the symptoms are present
• Demonstrate that the symptoms are relieved by correction of the hypoglycemia by administration of glucose or glucagon |
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Term
Hypoglycemia
• Managementforpatientswithdiabetes |
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Definition
| patient education; IV dextrose if impaired |
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Term
Hypoglycemia
• Managementforpatientswithout diabetes |
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Definition
| Thefirststep is to review the patient's history in detail, including the nature and timing of symptoms (particularly in relationship to meals), existence of underlying illnesses or conditions, medications taken by the individual and by family members, and social history. In a patient with documented hypoglycemia, the cause may be apparent from the history and physical exam. When the cause of hypoglycemia is not evident, laboratory evaluation is needed. Find the cause and treat. |
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Term
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Definition
• Pregnant women are screened for diabetes at 24 to 28 weeks of gestation and an increasing number will be diagnosed with gestational diabetes mellitus (GDM)
• During pregnancy, the placenta, which connects the baby to the blood supply, produces high levels of various other hormones. Almost all of them impair the action of insulin in the cells, raising blood sugar.
• Modest elevation of blood sugar after meals is normal during pregnancy
• Labs: glucose tolerance test; fasting blood glucose |
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Term
Gestational Diabetes
• Complications |
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Definition
| large for gestational age infant, macrosomia, preeclampsia, polyhydramnios, stillbirth, neonatal morbidity |
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Term
| Gestational Diabetes labs and management |
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Definition
• Labs: a two-hour, 75-gram oral glucose tolerance test between 6 and 12 weeks
• Management: nutritional support, third trimester ultrasound to screen for macrosomia, encourage women to breastfeed as it may improve glucose metabolism in the short-term, insulin or oral agents |
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Term
| Multiple Endocrine Neoplasia Type 1: MEN 1 |
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Definition
an autosomal dominant predisposition to tumors of the parathyroid glands, anterior pituitary, and enteropancreatic endocrine cells (pancreatic islet cells)
• The presence of MEN1 is defined clinically as the occurrence of two or more primary MEN1 tumor types, or in family members of a patient with a clinical diagnosis of MEN1, the occurrence of one of the MEN1-associated tumors |
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Term
Multiple Endocrine Neoplasia Type 1: MEN 1
• Clinical Manifestations:
• Primary hyperparathyroidism |
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Definition
| -due to multiple parathyroid tumors. Usually asymptomatic. Hypercalcemia detected by routine screening. If manifestations occur: may include decreased bone mineral density, kidney stones, and symptoms of hypercalcemia (polyuria, polydipsia, constipation); high serum PTH will be present as well |
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Term
Multiple Endocrine Neoplasia Type 1: MEN 1
• Clinicalmanifestations:
• Pituitaryadenomas
• Pancreaticisletcell/GItumors: |
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Definition
| lifethreatening; most common cause of symptomatic disease is Zollinger-Ellison (gastrinoma) syndrome which leads to multiple peptic ulcers; serum gastrin levels may be high; symptomatic insulinomas may also occur; clinically "nonfunctioning" pancreatic neuroendocrine tumors may be malignant and capable of causing liver metastases, they may also secrete hormones |
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Term
Multiple Endocrine Neoplasia Type 1: MEN 1
• Insulinoma |
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Definition
Insulin-producingpancreaticisletcell adenomas in MEN1 are often small, may be multiple, and may be associated with the simultaneous presence of other islet cell tumors.
• InsulinomainMEN1typicallypresentsinthesecondto fourth decade of life, earlier than in sporadic insulinoma, which usually occurs in individuals older than 40 years
• Thediagnosisofinsulinomadepends,asinnonfamilial causes, upon the documentation of hypoglycemia with characteristic symptoms that are rapidly reversed by the administration of glucose, and inappropriately high serum insulin concentrations |
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Term
Multiple Endocrine Neoplasia Type 1: MEN 1
• Other tumors |
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Definition
| include carcinoid, cutaneous tumors, adrenal tumors (especially nonfunctional adrenocortical adenomas), gastric enterochromaffin-like cell carcinoids, pheochromocytoma (very rarely), angiomyolipomas, meningiomas, and spinal cord ependymomas |
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Term
| Multiple Endocrine Neoplasia Type 1: MEN 1 labs and management |
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Definition
• Lab: DNA sequencing but expensive; hypercalcemia, serum calcium, PTH, and prolactin annually to detect asymptomatic hyperparathyroidism and prolactinoma
• Management: carefully monitor all patients with MEN1, known MEN1 mutation carriers, and at-risk family members with unknown carrier status for symptoms or signs of MEN1-associated tumors, such as nephrolithiasis, amenorrhea (women), galactorrhea, erectile dysfunction (men), peptic ulcer disease, diarrhea, and neuroglycopenic or sympathoadrenal symptoms from hypoglycemia. |
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Term
Multiple Endocrine Neoplasia Type 1: MEN 1
• Management |
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Definition
may include parathyroidectomy if symptoms include symptomatic hypercalcemia, nephrolithiasis, and evidence of bone disease, such as diminished bone density or fracture
• Active ZES- PPI
• Pituitary adenomas-dopamine agonists, transsphenoidal surgery, radiation,
• Insulinomas-surgery because patients with MEN1 often have additional pancreatic tumors that may include other insulinomas, local excision of any tumors in the head of the pancreas plus a distal subtotal pancreatectomy is frequently performed.
• Neuroendocrine tumors-surgery, ablation, chemoembolization, or radioembolization, hepatic artery embolization, liver transplant |
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Term
MEN 2
• Multiple endocrine neoplasia type 2 (MEN2) |
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Definition
is an autosomal dominant disorder with an estimated prevalence of 1 per 30,000 in the general population. MEN2 is subclassified into two distinct syndromes: types 2A (MEN2A) and 2B (MEN2B).
• Within MEN2A, there are four variants: classical MEN2A, MEN2A with cutaneous lichen amyloidosis (CLA), MEN2A with Hirschsprung disease (HD), and familial medullary thyroid cancer (FMTC)
• The genetic defect in these disorders involves the RET proto-oncogene on chromosome 10 |
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Term
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Definition
• MEN2A is a heritable predisposition to medullary thyroid cancer (MTC), pheochromocytoma, and primary parathyroid hyperplasia. There are four variants of MEN2A.
• MEN2B shares the inherited predisposition to MTC and pheochromocytoma found in MEN2A, but there is no parathyroid gland involvement. Patients with MEN2B tend to have, in addition, mucosal neuromas, intestinal ganglioneuromas, and a Marfanoid habitus. |
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Term
| ThediagnosisofMEN2isbasedupon |
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Definition
thepresence of the classical clinical features, family history, and genetic testing.
• Labs:InallpatientsdiagnosedwithMEN2,measure plasma fractionated metanephrines (as the initial screen for pheochromocytoma) and serum calcium and PTH (to rule out hyperparathyroidism requiring concomitant surgical intervention). RET mutation genetic testing; family genetic screening
• ForpatientswithMEN2whopresentwith pheochromocytoma rather than MTC, measure serum calcitonin and obtain a thyroid and neck ultrasound to assess for the presence of MTC |
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Term
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Definition
Ifpheochromocytomaisfound,itshould be removed prior to thyroidectomy. Total thyroidectomy is recommended since all patients develop MTC
• Postsurgery-monitorfordevelopmentof hypoparathyroidism or injury to the recurrent or superior laryngeal nerves
• Prophylacticthyroidectomymaybeperformedinfamily members
• Ifhyperparathyroidsmisasymptomatic,maydefer surgery and long-term monitoring for worsening hypercalcemia, renal impairment, and bone loss is needed. The development of any of these findings indicates disease progression and the need for surgical intervention. |
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Term
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Definition
• Also known as: syndrome X, the insulin resistance syndrome, the deadly quartet, or the obesity dyslipidemia syndrome
• The metabolic syndrome is an important risk factor for subsequent development of type 2
diabetes and/or CVD.
• The key clinical implication of a diagnosis of metabolic syndrome is identification of a patient who needs aggressive lifestyle modification focused on weight reduction and increased physical activity |
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Term
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Definition
• Determined by calculating the body mass index (BMI, defined as the weight in kilograms divided by height in meters squared).
• Overweight is defined as a BMI of 25 to 29.9 kg/m2
• Obesity is defined as a BMI of ≥30 kg/m2.
• Severe obesity is defined as a BMI ≥40 kg/m2 (or ≥35 kg/m2 in the presence of comorbidities)
• Management: exercise, diet, dietician, drug therapy, surgery |
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Term
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Definition
• Natural menopause is defined as the permanent cessation of menstrual periods, determined retrospectively after a woman has experienced 12 months of amenorrhea without any other obvious pathological or physiological cause.
• It occurs at a median age of 51.4 years in normal women and is a reflection of complete, or near complete, ovarian follicular depletion, with resulting hypoestrogenemia and high follicle-stimulating hormone (FSH) concentrations |
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Term
| Menopause symptoms and management |
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Definition
• Symptoms: hot flashes, sleep disturbances, depression, vaginal dryness, cognitive changes, joint pain, sexual function decline, vaginal atrophy, decline in libido, lability/depression
• Management: HRT: estrogen, progestin, monitor with mammography, monitor for depression |
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Term
Hyperthyroidism
• Symptoms, PE, Labs |
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Definition
weight loss, heat intolerance, tremor, palpitations, anxiety, increased frequency of bowel movements, shortness of breath, increased appetite, and goiter
• Other symptoms that may be present include hyperdefecation (not diarrhea), urinary frequency, oligomenorrhea or amenorrhea in women, and gynecomastia and erectile dysfunction in men
• PE: hyperactivity, lid lag, rapid speech, thin and fine hair, tachycardia, systolic HTN, tremor, proximal muscle weakness, hyperreflexia
• Labs: low TSH. The serum TSH concentration alone cannot determine the degree of biochemical hyperthyroidism; serum free T4 and T3 are required to provide this information |
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Term
| overt vs subclinical hyperthyroidism |
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Definition
• Manypatientswithoverthyperthyroidismhave high free T4 and T3 concentrations. In some patients, however, only the serum T3 or serum T4 is elevated.
• Inpatientswithsubclinicalhyperthyroidism,TSHis below normal (but usually >0.05 mU/L) and serum free T4, T3, and free T3 are normal.
• Subclinicalhyperthyroidism,definedasnormal serum levels of free thyroxine (T4) and triiodothyronine (T3) with a suppressed TSH level |
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Term
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Definition
an autoimmune disease that may consist of hyperthyroidism, goiter, eye disease (orbitopathy), and occasionally a dermopathy referred to as pretibial or localized myxedema.
• In this disorder, the body makes an antibody (a protein produced by the body to protect against a virus or bacteria) called thyroid- stimulating immunoglobulin (TSI) that causes the thyroid gland to make too much thyroid hormone.
• Symptoms: exophthalmos, periorbital and conjunctival edema, limitation of eye movement, and infiltrative dermopathy (pretibial myxedema)
• Labs: If TSH is low and only serum T3 is high (normal free T4 concentration), the patient most likely has Graves' disease, radioiodine uptake test, a serum T3/T4 ratio >20 ng/mcg and a serum free T3/free T4 ratio >0.3
• A quantitative thyroid blood flow by ultrasonography may be helpful to differentiate Graves' hyperthyroidism from painless thyroiditis |
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Term
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Definition
• Thetermthyroiditisencompassesadiversegroupof disorders characterized by some form of thyroid inflammation
• Theclassicpatternofchangesinthyroidfunctionin patients with subacute and painless thyroiditis is hyperthyroidism, followed by hypothyroidism and then recovery.
• Hyperthyroidism,whenitoccurs,isduetodamageto thyroid follicular cells and breakdown of stored thyroglobulin, leading to unregulated release of thyroxine (T4) and triiodothyronine (T3).
• HyperthyroidismlastsonlyuntilthestoresofT4andT3 are depleted, usually two to six weeks. Hypothyroidism is also usually transient but can rarely be permanent
• Thyroiditis that presents with thyroid pain and tenderness is typically caused by subacute thyroiditis and, less frequently, by infectious or traumatic etiologies. It may also occur after radioiodine therapy.
• Painless thyroiditis is often autoimmune mediated and can also occur after exposure to certain drugs, such as interferon alfa, interleukin-2, lithium, tyrosine kinase inhibitors, and checkpoint inhibitor immunotherapy |
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Term
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Definition
• Symptoms: fatigue, cold intolerance, weight gain, constipation, dry skin, myalgia, and menstrual irregularities, bradycardia, diastolic hypertension, and a delayed relaxation phase of the deep tendon reflexes
• Primary hypothyroidism is characterized by a high serum thyroid-stimulating hormone (TSH) concentration and a low serum free thyroxine (T4) concentration
• Subclinical hypothyroidism is defined biochemically as a normal free T4 concentration in the presence of an elevated TSH concentration
• Secondary (central) hypothyroidism is characterized by a low serum T4 concentration and a serum TSH concentration that is not appropriately elevated
• The treatment of choice for correction of hypothyroidism is synthetic thyroxine (T4, levothyroxine) |
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Term
| Hashimoto’s thyroiditis (chronic autoimmune thyroiditis) |
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Definition
• the most common cause of hypothyroidism in iodine-sufficient areas of the world
• The usual course is gradual loss of thyroid function.
• Infection, stress, sex steroids, pregnancy, iodine intake, and radiation exposure are the known possible precipitating factors
• The two major forms are goiterous autoimmune thyroiditis and atrophic autoimmune thyroiditis (often called primary myxedema), with the common pathologic feature being lymphocytic infiltration and follicular destruction |
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Term
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Definition
• Thyroid follicular epithelial-derived cancers include papillary, follicular, and anaplastic cancer.
• Papillary and follicular cancers are considered differentiated cancers, and patients with these tumors are often treated similarly despite biologic differences.
• Papillary is the most common
• Follicular peaks ages 40-60; papillary ages 30-50 Presents as a thyroid nodule. Either noted by the patient or during routine physical examination; or when incidentally noted during a radiologic procedure, such as carotid US, neck CT, MRI, PET scanning
• Risk Factors: radiation, family history
• Nonpalpablenodules(incidentalomas)havethe same risk of malignancy as palpable nodules of the same size.
• 80percenthavelymphnodemetastases(halfof which are microscopic)
• Theprimarytherapyfordifferentiated(papillary and follicular) thyroid cancer is surgery and preoperative ultrasound evaluation of the central and lateral neck lymph nodes
• T4replacementmaybeneeded,monitorTSH levels, radioiodine, recombinant human TSH |
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Term
| Parathyroid hormone (PTH) |
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Definition
| is one of three key hormones modulating calcium and phosphate homeostasis; the other two are calcitriol (1,25- dihydroxyvitamin D) and fibroblast growth factor 23 (FGF23) via direct effects on bone and kidney and indirect effects on the gastrointestinal tract. |
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Term
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Definition
• Occurswhenthereisdestructionoftheparathyroid glands (autoimmune, surgical), abnormal parathyroid gland development, altered regulation of PTH production, or impaired PTH action
• IfPTHsecretionisinsufficient,hypocalcemiadevelops.
• Hypocalcemiaduetohypoparathyroidismmaybe associated with a spectrum of clinical manifestations, ranging from few if any symptoms, if the hypocalcemia is mild, to life-threatening seizures, refractory heart failure, or laryngospasm if it is severe
• Symptoms:perioralnumbness,paresthesiasofthe hands and feet, muscle cramps) or severe (carpopedal spasm, laryngospasm, and focal or generalized seizures
• PE/objective findings: Trousseau's and Chvostek's signs due to tetany; less specific symptoms, such as fatigue, hyperirritability, anxiety, and depression, and some patients, even with severe hypocalcemia, have no neuromuscular symptoms. Cardiac findings may include a prolonged QT interval, hypotension, heart failure, and arrhythmia
• Chronic findings: presence of basal ganglia calcifications (CT scan), cataracts, dental abnormalities, and ectodermal manifestations
• Labs: Measuring serum total calcium, albumin, magnesium, phosphorus, and intact PTH levels. In patients with hypoalbuminemia or hyperalbuminemia, the measured serum calcium concentration should be corrected for the abnormality in albumin or ionized calcium should be measured
• Persistent hypocalcemia with a low or inappropriately normal PTH level and hyperphosphatemia is, in the absence of hypomagnesemia, virtually diagnostic of hypoparathyroidism (PTH deficiency).
• Treatment: IV calcium gluconate if severe; oral calcium and vitamin D for less severe: Calcitrol; other Vitamin D metabolites and recombinant PTH available
• Monitor labs and prevent kidney stones |
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Term
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Definition
• The most common clinical presentation of primary hyperparathyroidism (PHPT) is asymptomatic hypercalcemia.
• Usually first suspected because of the finding of an elevated serum calcium concentration
• Primary hyperparathyroidism occurs because of some problem with one or more of the four parathyroid glands:
• A noncancerous growth (adenoma) on a gland is the most common cause.
• Enlargement (hyperplasia) of two or more parathyroid glands accounts for most other cases.
• A cancerous (malignant) tumor is a rare cause of primary hyperparathyroidism |
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Term
| Secondary hyperparathyroidism |
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Definition
stheresultofanother condition that lowers calcium levels.
• Theparathyroidglandsoverworktocompensateforthe loss of calcium. Factors that may contribute to secondary hyperparathyroidism include:
• SeverecalciumdeficiencyThebodymaynotget enough calcium from your diet, often because your digestive system doesn't absorb the calcium from it.
• SeverevitaminDdeficiency.VitaminDhelps maintain appropriate levels of calcium in the blood, and it helps your digestive system absorb calcium from food.
– The body produces vitamin D when your skin is exposed to sunlight, and consuming vitamin D in food. Without enough vitamin D, then calcium levels may drop. |
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Term
Hyperparathyroid
• Chronic kidney failure |
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Definition
| The kidneys convert vitamin D into a form that the body can use. If your kidneys function poorly, usable vitamin D may decline and calcium levels drop. Chronic kidney failure is the most common cause of secondary hyperparathyroidism. |
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Term
Hyperparathyroid
• When symptoms do occur |
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Definition
they'retheresultofdamage or dysfunction in other organs or tissues due to high calcium levels circulating in the blood and urine or too little calcium in bones.
– Fragile bones that easily fracture (osteoporosis) – Kidney stones
– Excessive urination
– Abdominal pain
– Tiring easily or weakness
– Depression or forgetfulness
– Bone and joint pain
– Frequent complaints of illness with no apparent cause – Nausea, vomiting or loss of appetite |
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Term
| Hyperparathyroid management |
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Definition
•calcium, phosphorus, Vitamin D, parathyroid scan, bone density scan; watch and wait, surgery, drugs such as calcimimetic (mimics calcium in blood);
• Calcimimetic may trick the parathyroid glands into releasing less parathyroid hormone
• HRT if osteoporosis
• Biphosphonates prevent the loss of calcium from bones |
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Term
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Definition
• Unilateral tumors or masses of the adrenal gland are common.
• They are categorized as either functional (hormone-secreting) or silent, and as either benign or malignant
• The majority of adrenocortical tumors are benign, nonfunctioning adenomas that are discovered incidentally on abdominal imaging studies (adrenal incidentalomas)
• Others are benign, hormone- secreting adenomas that cause Cushing's syndrome, primary aldosteronism or, much less commonly, virilization or feminization. Pheochromocytomas are adrenomedullary, not adrenocortical tumors
• Adrenocortical carcinomas (ACCs) are rare, frequently aggressive tumors, which may be functional and cause Cushing's
syndrome and/or virilization, or nonfunctional and present as an abdominal mass or an incidental finding.
• Management:fastingbloodglucose,serumpotassium, cortisol, corticotropin (ACTH), 24-hour urinary free cortisol, fasting serum cortisol at 8 AM following a 1 mg dose of dexamethasone at bedtime, adrenal androgens (dehydroepiandrosterone sulfate [DHEAS], androstenedione, testosterone, 17- hydroxyprogesterone), and serum estradiol in men and postmenopausal women
• Mostadrenaladenomasarelessthan4cmindiameter. In contrast, most ACCs are greater than 4 cm in diameter when discovered. The lipid-rich nature of cortical adenomas is helpful in distinguishing this benign tumor from carcinoma on computed tomography (CT) scanning/MRI/Fine needle biopsy |
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Term
| Adrenal Tumors: Pheo vs. Paraganglioma |
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Definition
• Catecholamine-secreting tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic ganglia are referred to as "pheochromocytomas" and "catecholamine- secreting paragangliomas" ("extraadrenal pheochromocytomas"), respectively.
• Because the tumors have similar clinical presentations and are treated with similar approaches, many clinicians use the term "pheochromocytoma" to refer to both adrenal pheochromocytomas and catecholamine-secreting paragangliomas.
• However, the distinction between pheochromocytoma and paraganglioma is an important one because of implications for associated neoplasms, risk for malignancy, and genetic testing |
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Term
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Definition
• Symptoms:classictriad-episodicheadache,sweating, and tachycardia; sustained or paroxysmal hypertension is the most common sign
• Suspicion:Resistanthypertension;Hyperadrenergic spells (self-limited episodes of nonexertional palpitations, diaphoresis, headache, tremor, or pallor)
• HighSuspicion:Afamilyhistoryofpheochromocytoma; A genetic syndrome that predisposes to pheochromocytoma MEN2; A past history of resected pheochromocytoma; An incidentally discovered adrenal mass that has imaging characteristics consistent with pheochromocytoma
• Management: 24-hour urinary fractionated catecholamines, plasma fractionated metanephrines
• Treatment: preoperative alpha-adrenergic blockade-phenoxybenzamine; after adequate alpha-adrenergic blockade has been achieved, beta-adrenergic blockade is begun; surgery |
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Term
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Definition
• AlmostallpatientswithCushing'sdiseasehavea pituitary adenoma, although the tumor is often not demonstrable by imaging
• IatrogenicCushing’ssyndrome-frompharmacologic doses of glucocorticoids, seldom reported
• Cushing’sdisease-PituitaryACTH-dependentCushing's syndrome is five to six times more common than Cushing's syndrome caused by benign and malignant adrenal tumors combined
• EctopicACTHsyndrome-fromsmallcelllungcancer, bronchopulmonary carcinoids
• AdrenalTumors |
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Term
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Definition
• Primaryadrenalinsufficiency
• Causes:autoimmuneadrenalitis-isolatedadrenal insufficiency, Polyglandular autoimmune syndrome type I, Polyglandular autoimmune syndrome type II; infections adrenalitis-TB, disseminated fungal infections like Histoplasmosis, paracoccidiolidomycosis, HIV/AIDS, Syphillis, African trypanosomiasis; metastatic cancer-primarily lung, breast, stomach and colon; drugs-Ketoconazole, Fluconazole, Rifampin, Phenytoin, Barbituates, Megestrol acetate,etc; other- Adrenoleukodystrophy and adrenomyeloneuropathy, Congenital adrenal hypoplasia, Familial glucocorticoid deficiency, Familial glucocorticoid resistance, Defective cholesterol metabolism
• Prolonged administration of pharmacologic doses of synthetic glucocorticoids is by far the most common cause of ACTH deficiency and consequent adrenal insufficiency.
• Labs: cortisol, plasma ACTH, ACTH stimulation test
• Treatment: glucocorticoids, plasma ACTH
• All patients should wear a medical alert bracelet and have supplies for emergency glucocorticoid injections.
• Symptoms: fatigue, anorexia, weight loss, muscle weakness, abdominal pain, diarrhea, hypoglycemia, hyperpigmentation
• Isolated corticotropin (ACTH) deficiency, although rare, should be considered in any patient who has unexplained severe hypoglycemia or hyponatremia |
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Term
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Definition
• One of the most common chromosome anomalies in humans and represents an important cause of short stature and ovarian insufficiency in females.
• It is caused by loss of part or all of an X chromosome
• Short stature
• It is typically associated with primary amenorrhea due to early ovarian failure, but a minority of girls with Turner syndrome begin pubertal development and a few may achieve regular menses and even fertility
• Girls or women with Turner syndrome whose karyotype includes a Y chromosome (such as 45,X/46,XY mosaicism) are at increased risk for gonadoblastoma, a neoplasm that occurs in dysgenetic gonads. This risk can be reduced by prophylactic gonadectomy
• Risk for cardiovascular morbidity, renal abnormalities, HTN, aortic valvular disease, coarctation of the aorta, VSD, pulmonary or systemic venous abnormalities, hypoplastic left heart syndrome, aortic dissection; osteoporosis, fractures thought to be resulting in estrogen deficiency
• Clinical features: webbed neck and congenital lymphedema in a neonate, short stature and reduced growth velocity in a child, and/or failure to develop breasts
• Management: karyotype, recombinant human growth hormone therapy as soon as the height of a girl with Turner syndrome falls below the 5th percentile for age, which usually occurs between two and five years of age, low-dose estrogen therapy, comprehensive cardiovascular evaluation by a specialist, including echocardiography. MRI to monitor for aortic dilatation
• During childhood, monitoring focuses on learning disabilities, conductive and sensorineural hearing impairment, scoliosis, and autoimmune disease (thyroiditis and celiac disease).
• Women with Turner syndrome have premature ovarian failure (primary ovarian insufficiency). We suggest that these women continue estrogen-progestin therapy until the average age of menopause; IVF |
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Term
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Definition
| in a male refers to a decrease in either of the two major functions of the testes: sperm production and testosterone production. These abnormalities usually result from disease of the testes (primary hypogonadism), disease of the pituitary or hypothalamus (secondary hypogonadism), or, more rarely, a defect in the ability to respond to testosterone |
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Term
| Thedistinctionbetweenprimaryandsecondary hypogonadism is made by measurement of the serum concentrations of LH and FSH: |
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Definition
– The patient has primary hypogonadism if the serum testosterone concentration and the sperm count are below normal and the serum LH and FSH concentrations are above normal; more likely to be associated with gynecomastia, presumably due to the stimulatory effect of the supranormal serum FSH and LH concentrations on testicular aromatase activity. This results in increased conversion of testosterone to estradiol and enhanced testicular secretion of estradiol relative to testosterone
– The patient has secondary hypogonadism if the serum testosterone concentration and the sperm count are subnormal and the serum LH and FSH concentrations are normal or reduced. |
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Term
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Definition
maybeduetocongenital abnormalities or acquired diseases.
• Congenitalabnormalitiesinclude:Klinefeltersyndrome (the most common congenital cause), FSH and LH receptor mutations, cryptorchidism, disorders of androgen biosynthesis, and myotonic dystrophy.
• Acquireddiseasesinclude:infection(mumpsorchitis); radiation and chemotherapy; trauma; testicular torsion; chronic, systemic diseases; environmental
toxins; suramin; ketoconazole; glucocorticoids; autoimmune damage; and human immunodeficiency virus (HIV). Many cases of primary hypogonadism remain unexplained (idiopathic). |
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Term
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Definition
• Themostcommoncongenitalabnormalitycausing primary hypogonadism, occurring in approximately 1 in 1000 live male births
• Thissyndromeistheclinicalmanifestationofamale who has an extra X chromosome.
• Symptoms:smalltestesthatdonotproducemuch testosterone, a shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility); genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis)
• Sometimes they are taller than their peers
• Risk of breast cancer, and development of SLE
• Learning disabilities and delayed speech and language development
• Management: chromosome analysis, testosterone, LH, FSH, testosterone replacement, breast tissue removal, speech and PT, educational evaluation and support, fertility treatment, psychological counseling |
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Term
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Definition
• The polycystic ovary syndrome is a disorder characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovaries
• The polycystic ovary syndrome increases the risk of infertility, endometrial cancer, abnormal glucose metabolism, and dyslipidemia
• Management: lifestyle modification, hair removal, and combined oral contraceptive therapy |
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