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Pediatric Board Review
Endocrinology
57
Biology
Professional
07/06/2013

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Term
Hypothalamus communicates with posterior pituitary via
Definition
Nerve stimulation
Term
Hypothalamus communicates with anterior pituitary via
Definition
hormonal release via hyophyseal portal circulation
Term
Posterior pituitary function
Definition
Stores and releases oxytocin and vasopressin
Term
ADH release in INCREASED with
Definition
increase in serum osmolality, aging, hyprcalcemia, hypoglycemia, lithium, volume contraction
Term
ADH release is DECREASED with
Definition
hypokalemia
Term
ADH threshold setpoint is decreased (ADH released at lower osmolality) with
Definition
pregnancy, premenstrual, volume contraction
Term
ADH threshold set point is increased (ADH released at higher osmolality) with
Definition
hypertension, hypervolemia, corticosteroids
Term
Hormones produced by anterior pituitary
Definition
TSH, LH, FSH, GH, ACTH, prolactin
Term
Cushings disease is caused by
Definition
a true ACTH secreting pituitary tumor
Term
GH and TSH are inhibited by
Definition
somatostatin
Term
Prolactin is inhibited by
Definition
Dopamine
Term
Prolactin is stimulated by
Definition
Anti-dopaminergic drugs (metoclopromaide)
TRH
Term
Congenital hypopituitarism
Definition
Also includes GH deficiency and may include others. Babies are normal at birth but fall below the mean by age 1 year. May include microphallus, hypoglycemia and hyperbilirubinemia.
Term
Hall Pallister syndrome
Definition
Absence of pituitary gland. Associated with hyopthalamic hemartoblastoma, polydactyly, nail dysplasia, bifid epiglottis, imperforate anus, heart, lung and kidney anomalies
Term
Septo-optic dysplasia
Definition
optic nerve abnormality, agensis of septum pellucidum or corpus callosum (or both), hypothalamic insufficiency, single central incisor
Term
Empty sella syndrome
Definition
Can develop de novo, with previous surgery or radiation. Destroys hyothalamus, pituitary and stalk. Most common tumor to do this is CRANIOPHARYNGIOMA
Term
Strongest osmotic stimulus for ADH
Definition
1. Sodium
2. Mannitol
Term
Most potent stimulus of ADH
Definition
Nausea
Term
Constitutional growth delay
Definition
1. Normal growth velocity
2. Delayed bone age (= to height age)
3. Family history of delayed puberty
Term
Genetic short stature
Definition
1. Normal growth velocity
2. Normal bone age
3. Family history of short stature
Term
Growth hormone deficiency
Definition
1. Decreased growth velocity
2. Delayed bone age
3. May or may not be family history
Term
Treatment of central DI
Definition
DDAVP (5-10)
Term
Treatment of nephrogenic DI
Definition
Sufficient water intake, low sodium diets, thiazides
Term
Causes of SIADH
Definition
Rare in children.
Excess ADH secretion, pneumonia, tumors, TB, CF, meningitis, encephalitis, head trauma, vincristine
Term
Effects and treatment of SIADH
Definition
hyponatremia, low serum osmolality, high urine osmolality, low urine output
Treat with fluid restriction
Term
Treatment of growth hormone excess
Definition
Obtain an MRI for possible adenoma
Octreotide
Term
Treatment of prolactinoma
Definition
Bromocriptine
Term
Most common anterior pituitary tumor
Definition
prolactinoma
Term
Beckwith-Wiedemann Syndrome
Definition
fetal overgrowth with hypertrophy of organs and pancreatic beta cell hyperplasia. Predisposed to Wilms tumor, adrenocortical carcinoma, hepatoblastoma
Term
Precocious puberty in a male
Definition
Always get an MRI! High likelihood of a tumor
Term
Peak height velocity in females
Definition
Tanner stage 2-3, always preceding menarche. Menarch always occurs at Tanner stage 4
Term
Peak height velocity in males
Definition
Tanner stage IV-V
Term
McCune-Albright syndrome
Definition
Fibrous skeletal dysplasia, multiple endocrine organs reliant on cAMP (TSH, LH, FSH, ACTH). Characterized by precocious puberty with ovarian cysts and bleeding, hypothyroidism, Cushing syndrome, phosphaturia
Term
Radioiodine uptake test
Definition
Useful only in hyperthyroidism
Increased in: Graves, hot nodules, secreting tumors (thyroid itself)
Decreased in: self limited thyroiditis, factitia, amiodarone
Term
Thyroid scan
Definition
Gives rough picture of thyroid
Helpful only with nodules
Term
Most common cause of congenital hypothyroidism
Definition
Thyroid dysgenesis
Term
Transient congenital hypothyroidism
Definition
Iodine deficiency
Term
Symptoms of congenital hypothyroidism
Definition
More common in girls, feeding problems, choking, enlarged tongue, constipation, murmur, enlarged posterior fontanelle, delayed bone maturation and dentition, DD, neurosensory hearing deficit
Term
Antibody found only in Graves
disease
Definition
Thyroid stimulating immunoglobulin
antibody to TSH receptor
Term
Medical management of Graves disease
Definition
1. methimazole (drug of choice)
2. PTU (associated with hepatotoxicity)
Can cause rash, agranulocytosis
Term
Approach to thyroid nodule
Definition
1. US for solid or cystic
2. Thyroid scan for hot or cold
3. FNA
Skip to exicision instead of FNA if hx of radiation, rapid growth, hoarseness, or distant mets
Term
Pseudohypoparathyroidsim
Definition
1A: most common, autosomal dominant, abnormality in PTH binding, round, stocky, MR, hypocalcemia, brachymetacarpals
1B: normal phenotype, labs. PTH resistance
Type II: Hypocalcemia only
Term
MEN I
Definition
pancreas, parathyroid, anterior pituitary
Term
MEN IIA
Definition
medullary thyroid carcinoma, hyperparathyroidism, pheochromocytoma
Term
MEN IIB
Definition
medullary thyroid carcinoma, pheochromocytoma, neuromas
Term
Autoimmune polyendocrinopathy
Definition
autosomal recessive, mucocutaneous candidasis, hyperparathyroidism, Addison's disease, gonadal failure, hair loss, vitiligo, nail problems, chronic hepatitis
Term
Adrenoleukodystrophy
Definition
very long chain fatty acids in tissues, dementia with loss of vision, hearing, speech and gait, with adrenal cortex insufficiency
Term
21-hydroxylase deficiency
Definition
Most common form of CAH. Results in salt wasting, virilization, build-up of progesterone
Term
11B-hydroxylase deficiency
Definition
Converts deoxy-cortisol to cortisol. Seen in N. African decent. NO SALT WASTING. Severe, virilization, hypertension.
Term
3B-hydroxysteroid dehydrogenase deficiency
Definition
Converts 5 steroids to 4 steroids. Results in low cortisol, low aldosterone and increased DHEA. 17-hydroxypregnenenolone. Needs sex hormone replacement
Term
17-hydroxylase deficiency
Definition
Hypertension, hypokalemia, deficiency of sex hormones. Needs sex hormone replacement
Term
Pheochromocytoma
Definition
excessive epi and norepi, hypertension, palpitations, elevated blood and urinary catecholamines, urinary VMA and metanephrines
Term
Noonan syndrome
Definition
Normal karyotype, chromosome 12. Phenotypic looks like Turner syndrome. MR, sensorineural hearing loss, pulmonic valve stenosis.
Term
kallman syndrome
Definition
hypogonadotropic hypogonadism, anosomia, x-linked, hypogonadism
Term
pseudohermaphroditism
Definition
one set of gonads, appropriate to chromosomes, but external genitalia does not match
Term
True hermaphroditism
Definition
male and female gonads
Term
Donohue syndrome
Definition
lephrechaunism. IUGR, fasting hypoglycemia, profound insulin resistance
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