Term
| TSH binding to receptor on thyroid follicular epithelium results in activation of what type of signaling pathway? |
|
Definition
| Activation of Gs protein, increased intracellular cAMP, protein kinases |
|
|
Term
| What does propylthiouracil do? |
|
Definition
| Inhibits oxidation of iodide, blocks production of thyroid hormones. Also inhibits peripheral deiodination of T4 to T3. |
|
|
Term
| What effect do iodides have in large doses? |
|
Definition
| They inhibit proteolysis of thyroglobulin, so thyroid hormone is made but is not released into the blood |
|
|
Term
| What are the 3 most common causes of thyrotoxicosis? |
|
Definition
| diffuse hyperplasia associated with Graves disease, hyperfunctional multinodular goiter, hyperfunctional adenoma |
|
|
Term
| Congenital hypothyroidism is most often the cause of... |
|
Definition
|
|
Term
| What is the most common cause of dyshormonogenic goiter? |
|
Definition
| TPO gene mutations (thyroid peroxidase) |
|
|
Term
| What is Pendred syndrome and what causes it? |
|
Definition
| hypothyroidism and sensorineural deafness, mutations in SLC26A4, pendrin, anion transporter in thyrocytes and inner ear |
|
|
Term
| What is thyroid hormone resistance syndrome? |
|
Definition
| Rare auto-dom disorder caused by mutation in thyroid hormone receptor |
|
|
Term
| What is the most common cause of hypothyroidism in iodine-sufficient areas? |
|
Definition
| autoimmune hypothyroidism |
|
|
Term
| What are the clinical features of cretinism? |
|
Definition
| Impaired development of the skeletal system and CNS, severe mental retardation, short stature, coarse facial features, protruding tongue, umbilical hernia |
|
|
Term
| Hashimotos - most prevalent age range? Women or men more affected? Genetic polymorphisms? |
|
Definition
| 45-65, women, CTLA4 and PTPN22 (both inhibit T-cell function) |
|
|
Term
| Hashimotos: thyroid auto-immunity is accompanied by a progressive depletion of thyrocytes by _____ and replacement of the thyroid parenchyma by _______ cell infiltration and ______. |
|
Definition
| apoptosis, mononuclear, fibrosis |
|
|
Term
| Hashimotos: Characterize the enlargement, the capsule, infiltration, follicles, interstitial connective tissue. |
|
Definition
| Diffuse enlargement, intact capsule, mononuclear infiltrate with small lymphos, plasma cells and germinal centers. Follicles atrophic, lined by granular eosinophilic epithelial cells called Hurthle cells. Interstitial CT is increased. Fibrous variant - severe atrophy with dense keloid-like fibrosis that does not extend beyond the capsule. |
|
|
Term
| What condition may be preceded by transient thyrotoxicosis caused by disruption of follicles? |
|
Definition
|
|
Term
| People with Hashimoto's thyroiditis are at increased risk of developing... |
|
Definition
| other autoimmune diseases, B-cell non-Hodgkin lymphomas, especially MALT lymphomas, controversial predisposition to papillary carcinoma |
|
|
Term
| Subacute thyroiditis: most common in which age range? Women or men? Triggered by what? More in which season? |
|
Definition
| 40-50, women, viral infection, summer |
|
|
Term
| Subacute thyroiditis: Enlargement? Texture? Capsule? Early changes? Later, characteristic features? Even later? |
|
Definition
| Uni or bilaterally enlarged, firm, capsule intact, may be slightly adherent to surrounding structures. Early- scattered follicles may be disrupted, replaced by neutros (microabscesses). Later - aggregates of lymphos, activated macs, plasma cells about collapsed and damaged follicles, multinucleate fiant cells enclose fragments of colloid (granulomatous thyroiditis). Later - chronic inflam infiltrate, fibrosis. |
|
|
Term
| What is the most common cause of thyroid pain? How long does it usually last? Hypo or hyperthyroidism? Radioactive iodine uptake increased or decreased? |
|
Definition
| granulomatous thyroiditis, 2-6 weeks, hyper, decreased (unlike Graves) |
|
|
Term
| Painless thyroiditis is also called... |
|
Definition
| subacute lymphocytic thyroiditis |
|
|
Term
| Subacute lymphocytic thyroiditis: age range? Women or men? Comes to clinical attention due to what? |
|
Definition
| middle-aged, women, mild hyperthyroidism and/or goitrous enlargement |
|
|
Term
| A disease process resembling __________ can occur during the postpartum period in up to 5% of women. |
|
Definition
|
|
Term
| Painless thyroiditis and postpartum thyroiditis are variants of ________, since the majority of cases have _______. |
|
Definition
| Hashimoto's, anti-thyroid peroxidase antibodies or family history of autoimmune disorders |
|
|
Term
| As many as a third of cases of painless thyroiditis can evolve into.... |
|
Definition
|
|
Term
| Painless thyroiditis: Gross appearance of thyroid? Infiltration? Follicles? |
|
Definition
| possible mild symmetric enlargement, lymphocytic infiltration with hyperplastic germinal centers, patchy disruption and collapse of follicles |
|
|
Term
| What characterizes Riedel thyroiditis? What is the suggested etiology? |
|
Definition
| extensive fibrosis involving the thyroid, can have a hard and fixed mass resembling a carcinoma. Autoimmune, with circulating anti-thyroid Abs |
|
|
Term
| What is the most common cause of endogenous hyperthyroidism? |
|
Definition
|
|
Term
| What is the triad of clinical findings in Graves? |
|
Definition
| hyperthyroidism, opthalmopathy, dermopathy (pretibial myxedema) |
|
|
Term
| Graves disease: age range for peak incidence? Women or men? Genetic factors? 3 main types of Ig? |
|
Definition
| 20-40, women, immune-function genes like CTLA4, PTPN22, HLA-DR3. Thyroid-stimulating Ig, thyroid growth-stimulating Ig, TSH-binding inhibitor Ig |
|
|
Term
| What is the most recent theory for the cause of opthalmopathy in Graves? |
|
Definition
| Orbital preadipocyte fibroblasts express TSH receptor, T cells reactive against them secrete CKs, stimulate proliferation and synthesis of ECM components. Result is infiltration, edema, accumulation of ECM components, fatty infiltration |
|
|
Term
| Graves disease: Gross appearance? Cut section? Untreated epithelial cells? Colloid? Infiltrates? |
|
Definition
| Symmetrically enlarged from diffuse hypertrophy and hyperplasia. Soft meaty appearance like normal muscle. Tend to be tall and more crowded, form papillae which project into lumen. Colloid is pale with scalloped margins. Lymphoid infiltrates, predominantly T cell. |
|
|
Term
| In Graves, what does preop administration of iodine do? What about propylthiouracil? |
|
Definition
| involution of epithelium and accum of colloid by blocking thyroglobulin secretion. Exaggerates the epithelial hypertrophy and hyperplasia by stimulating TSH secretion. |
|
|
Term
| If dermopathy is present in Graves, what characterizes it? |
|
Definition
| thickening of dermis from deposition of GAGs and lymphocyte activation |
|
|
Term
| In Graves, what causes the wide, staring gaze and lid lag? Patients can spontaneously develop what condition? They are at increased risk of what types of diseases? What does radioactive iodine uptake show? |
|
Definition
| overactive sympathetics, hypothyroidism, autoimmune diseases, diffusely increased uptake |
|
|
Term
| What is the most common manifestation of thyroid disease? |
|
Definition
|
|
Term
| Diffuse and multinodular goiters reflect... |
|
Definition
| impaired synthesis of thyroid hormone, most often from iodine deficiency |
|
|
Term
| Most individuals with diffuse or multinodular goiters are ___thyroid. |
|
Definition
|
|
Term
| Diffuse nontoxic (simple) goiter causes what type of enlargement? What is another term for this condition? |
|
Definition
| diffuse enlargement of whole gland without nodules, colloid goiter |
|
|
Term
| Other than iodine deficiency, what contributes to endemic goiter and probably some cases of sporadic goiter? |
|
Definition
| ingestion of goitrogenic substances, like veggies from the cabbage family |
|
|
Term
| What are the two phases in the evolution of diffuse nontoxic (simple) goiter? Describe them. |
|
Definition
| Hyperplastic: diffuse and symmetrical enlargement, crowed columnar cells which may pile up and form projections, accumulation is not uniform. Colloid involution: follicular epithelium involutes to form enlarged, colloid-rich gland, epithelium is flattened and cuboidal, colloid is abundant |
|
|
Term
| Virtually all long-standing simple goiters convert into _________, due to recurrent episodes of ______ and _____. |
|
Definition
| multinodular goiters, hyperplasia and involution. |
|
|
Term
| Which condition produces the most extreme thyroid enlargements and is most frequently mistaken for neoplastic disease than any other thyroid condition? |
|
Definition
|
|
Term
| It is believed that multinodular goiters arise due to... |
|
Definition
| variations among follicular cells in their response to external stimuli. |
|
|
Term
| Do multinodular goiters have polyclonal or monoclonal nodules? |
|
Definition
| Both coexist within the same multinodular goiter |
|
|
Term
| Which thyroid condition causes changes within the gland that produce physical stress, leading to rupture of follicles and vessels followed by hemorrhages, scarring and sometimes calcification? |
|
Definition
|
|
Term
| What type of goiter leads to multilobular, asymmetrically enlarged glands, lateral pressure on midline structures, and can cause intrathoracic or plunging goiter? |
|
Definition
|
|
Term
| Describe the microscopic appearance of multinodular goiter. |
|
Definition
| colloid-rich follicles lined by flattened, inactive epithelium and areas of follicular hyperplasia accompanied by degenerative changes. |
|
|
Term
| What are some of the clinical effects of multinodular goiter? |
|
Definition
| mass effects, cosmetic effects, airway obstruction, dysphagia, SVC syndrome. Most are euthyroid or subclinically hyperthyroid. |
|
|
Term
| What is Plummer syndrome? |
|
Definition
| A substantial minority of pts with multinodular goiters have an autonomous nodule that develops and produces hyperthyroidism. It is not accompanied by infiltrative opthalmopathy or dermopathy. |
|
|
Term
| What gross feature distinguishes the hyperplastic nodules of multinodular goiter from follicular neoplasms? |
|
Definition
| There is no prominent capsule between the nodules and residual compressed thyroid parenchyma. |
|
|
Term
| What is the incidence of solitary thyroid nodules in US adults? |
|
Definition
|
|
Term
| Single nodules are 4 times more common in... |
|
Definition
|
|
Term
| Under __% of solitary thyroid nodules are malignant |
|
Definition
|
|
Term
| The overwhelming majority of solitary thyroid nodules turn out to be... |
|
Definition
| localized, non-neoplastic conditions |
|
|
Term
| What are the clinical clues that make a thyroid nodules more likely to be malignant? |
|
Definition
| if it is SOLITARY, in a YOUNGER pt, in a MALE, with a hx of RADIATION tx, if it is NONFUNCTIONAL and doesn't take up radioactive iodine (not a hot spot) |
|
|
Term
| Thyroid adenoma: derived from? They are generally not forerunners to ________, but a small subset may give rise to it. Vast majority are functional or nonfunctional? |
|
Definition
| Follicular epithelium. Carcinomas. Nonfunctional. |
|
|
Term
| A minority of nonfunctioning adenomas have mutations of _____ or ____, or bear a _______ fusion gene, which are genetic alterations shared with ______. |
|
Definition
| RAS, PIK3CA, PAX8-PPARG, carcinomas |
|
|
Term
| What types of somatic mutations have been found in toxic adenomas as well as toxic multinodular goiter? |
|
Definition
| mutations of TSH receptor signaling pathway, esp GOF mutations in TSHR or GNAS that lead to thyroid autonomy. These are rare in carcinomas. |
|
|
Term
| Thyroid adenoma- Typical gross appearance? Size? Color? What is the hallmark feature of adenomas? Areas with what degenerative changes can be seen? What do the follicles look like? Morphological variation? Mitotic figures? What is Hurthle or oxyphil change? |
|
Definition
| solitary spherical encapsulated lesion, about 3cm avg, gray-white to red-brown, intact well-formed capsule encircles the tumor, hemorrhage fibrosis calcification and cystic change , uniform appearing with colloid, little variation in cell morphology, mitotic figures are rare, neoplastic cells acquire brightly eosinophilic granular cytoplasm - clinical presentation and behavior is the same |
|
|
Term
| After radionuclide scanning of thyroid adenomas, as many as 10% of cold nodules eventually prove to be... |
|
Definition
|
|
Term
| What is the prognosis for resected follicular adenoma? |
|
Definition
| excellent, do not recur or metastasize |
|
|
Term
| What are the two oncogenic pathways involved in thyroid follicular-derived malignancies? What normally activates them? |
|
Definition
| MAP kinase and PI3K/AKT. Ligands binding receptor tyrosine kinases. |
|
|
Term
| What are the main types of genetic derangements seen in papillary carcinoma? What do they cause? |
|
Definition
| paracentric inversion or reciprocal translocation creating constitutively activated novel fusion protein RET/PTC, most common, especially with background radiation exposure. PTC1 and 2 are most common in sporadic cancers. Inversions or translocations of NTRK1 leading to constitutively activated fusion protein. GOF point mutation in BRAF (correlates with adverse prognostic factors). All lead to activation on MAP kinase signaling pathway. |
|
|
Term
| One third to one half of follicular carcinomas have mutations in which signaling pathway? What types of mutations does this include? What is the unique translocation seen in about 10%? |
|
Definition
| PI3K/AKT signaling pathway. GOF point mutations in RAS and PIK3CA, amplification on PIK3CA, LOF mutations in PTEN. PAX8-PPARG fusion gene. |
|
|
Term
| What types of genetic alterations are seen in anaplastic carcinomas? |
|
Definition
| the same as in others, but at higher rates, also other genetic hits like p53 inactivation or B-catenin activation |
|
|
Term
| What genetic alterations are present in medullary carcinomas? |
|
Definition
| germline RET proto-oncogene mutations that lead to constitutive activation, see in MEN-2 but also in half of sporadic cases |
|
|
Term
| What type of cancer is linked to deficiency of dietary iodine and therefore also linked to goiter? |
|
Definition
|
|
Term
| What is the most common form of thyroid cancer? |
|
Definition
|
|
Term
| What accounts for the majority of thyroid cancers associated with ionizing radiation? What is the peak age range for this cancer? |
|
Definition
|
|
Term
| Which cancer has branching papillae with a fibrovascular stalk covered with cuboidal epithelium that can either be well-differentiated or anaplastic with variation in morphology? |
|
Definition
|
|
Term
| Describe the nuclei of papillary carcinomas |
|
Definition
| optically clear or ground glass appearance, called Orphan Annie eye nuclei, from finely dispersed chromatin. Also has invaginations of cytoplasms that give the appearance of intranuclear inclusions or grooves. The diagnosis is made on these nuclear features. |
|
|
Term
| Which structures are seen in papillary carcinomas, sometimes within the cores of papillae, and are strong indicators of papillary carcinoma when found in fine needle aspiration samples? |
|
Definition
| psammoma bodies, concentrically calcified structures |
|
|
Term
| Mets to ______ are estimated to occur in up to half of papillary carcinoma cases. |
|
Definition
|
|
Term
| What is the most common variant of papillary carcinoma and what are its characteristics? |
|
Definition
| Follicular variant. Characteristic nuclei of papillary carcinoma but follicular architecture. Lower frequency of RET/PTC mutations, higher frequency of RAS mutations. Distinct mutation in BRAF associated with lower degree of activation. More frequently encapsulated, lower incidence of LN mets, more favorable prognosis. |
|
|
Term
| Describe the tall cell variant of papillary carcinoma. |
|
Definition
| tall columnar cells with intensely eosinophilic cytoplasm line the papillary structures. More in older people, higher freq of vascular invasion and mets. BRAF in most, sometimes WITH RET/PTC mutation. Aggressive. |
|
|
Term
| Which specific condition does this describe? Occurs in younger individuals, prominent papillary growth pattern intermixed with solid areas containing nests of squamous metaplasia. Extensive, diffuse fibrosis and lymphocytic infiltrate. LN mets are present in almost all cases. Lack BRAF mutations but RET/PTC mutations are found in about half the cases.P |
|
Definition
| diffuse sclerosing variant of papillary carcinoma. |
|
|
Term
| Does a single nodule due to papillary carcinoma move freely during swallowing? Can you distinguish it from a benign nodule? What are clinical signs of advanced disease? |
|
Definition
| yes, no, hoarseness, dysphagia, cough or dyspnea |
|
|
Term
| Are papillary carcinomas hot or cold masses? |
|
Definition
|
|
Term
| Papillary thyroid cancers have a 10-yr survival rate in excess of... |
|
Definition
| 95% (overall excellent prognosis, less favorable in older pts and those with extension or mets) |
|
|
Term
| Which cancer accounts for 5-15% of primary thyroid cancers, is more common in women, peaks at 40-60, and is more frequent in areas of iodine deficiency? |
|
Definition
|
|
Term
| Which thyroid cancer is typically composed of fairly uniform cells forming small follicles, reminiscent of normal thyroid? |
|
Definition
|
|
Term
| Occasionally, follicular carcinomas are dominated by cells with abundant granular, eosinophilic cytoplasm, called... |
|
Definition
| hurthle cell or oncocytic variant |
|
|
Term
| Occasionally, follicular carcinomas are dominated by cells with abundant granular, eosinophilic cytoplasm, called... |
|
Definition
| hurthle cell or oncocytic variant |
|
|
Term
| The distinction between which two thyroid conditions requires extensive histological sampling of the tumor-capsule-thyroid interface? |
|
Definition
| follicular adenoma vs. minimally invasive follicular carcinoma |
|
|
Term
| Histologically, widely invasive follicular carcinomas tend to have... |
|
Definition
| more solid or trabecular growth pattern, less differentiation, more mitotic activity |
|
|
Term
| Are follicular carcinomas typically hot or cold lesions? |
|
Definition
| cold, but rare more well-differentiated tumors may be warm |
|
|
Term
| Describe the propensity for follicular carcinoma to spread via lymphatics or vasculature. |
|
Definition
| rarely invade lymphatics, but vascular dissemination is common, with mets to bone, lungs, liver, etc |
|
|
Term
| Which type of thyroid cancer is derived from follicular epithelium, is aggressive, affects pts at mean age of 65, and 1/4 of pts have past history of another type of thyroid cancer? |
|
Definition
|
|
Term
| Anaplastic carcinomas are composed of highly variable cells, including which 3 types? What type of marker do these tumors express or not express? |
|
Definition
| giant cells, spindle cells and mixed spindle and giant cells. Expresses epithelial markers like cytokeratin but usually not thyroid markers like thyroglobulin |
|
|
Term
| Which cancer usually presents as a rapidly enlarging bulky neck mass, and has usually already spread into the neck or metastasized to distant sites? |
|
Definition
|
|
Term
| What are medullary carcinomas of the thyroid derived from? What do they secrete? In some instances, they can elaborate what other substances? 70% arise sporadically, the others occur in which settings? What mutations likely play a role in either type? Which occurs in younger vs. older? |
|
Definition
| they are neuroendocrine tumors derived from parafollicular cells or C cells, calcitonin, VIP serotonin or ACTH, MEN2A 2B or familial tumors without MEN syndrome, activating point mutations in RET proto-oncogene, cases with MEN2A or 2B in younger, sporadic and other familial carcinomas in adulthood |
|
|
Term
| How do the gross features of sporadic medullary carcinoma differ from common features in familial cases? |
|
Definition
| usually solitary nodule when sporadic, bilateral and multicentric are common in familial cases |
|
|
Term
| Which type of thyroid tumor is composed of polygonal to spindle-shaped cells which may form nests, trabeculae and even follicles? |
|
Definition
|
|
Term
| Which type of cellular deposit derived from altered calcitonin polypeptides is seen in adjacent stroma of medullary carcinomas? |
|
Definition
| acellular amyloid deposits |
|
|
Term
| Which thyroid cancer has membrane-bound electron dense granules within the cytoplasm of neoplastic cells? |
|
Definition
|
|
Term
| Which histological feature is seen in familial medullary carcinomas and usually absent in sporadic cases? |
|
Definition
| multicentric C-cell hyperplasia in the surrounding thyroid parenchyma |
|
|
Term
| CEA is a useful biomarker for which thyroid cancer? |
|
Definition
|
|
Term
| medullary carcinomas arising in the setting of ______ are usually more aggressive and metastasize more frequently. |
|
Definition
|
|
Term
| Describe the chief cells of the parathyroid. |
|
Definition
| polygonal cells with central, round, uniform nuclei. Vary from light to dark pink depending on glycogen content, which sometimes pools and gives the cell a water-clear appearance. Secretory granules have PTH. |
|
|
Term
| Describe the oxyphil cells of the parathyroid. |
|
Definition
| Throughout the gland or in clusters, acidophilic, larger than chief cells, tightly packed with mitochondria. Have glycogen granules but little or no secretory granules. |
|
|
Term
| In the parathyroid, stromal fat increases up to about age ___ and reaches a max of ___%. |
|
Definition
|
|
Term
| What are the 4 main metabolic functions of PTH regulating calcium? |
|
Definition
| increase renal tubular reabsorption, increases conversion of Vit D in kidneys, increases urinary phosphate EXcretion, augments GI calcium absorption |
|
|
Term
| What is the most common cause of incidental hypercalcemia? What about clinically apparent hypercalcemia? |
|
Definition
| primary hyperparathyroidism, malignancy |
|
|
Term
| How is malignancy associated with hypercalcemia? What is the basic mechanism? |
|
Definition
| Many solid cancers secrete PTHrP, promotes expression of RANKL on osteoblasts, binds to RANK receptor on osteoclast progenitor cells and promotes differentiation into mature osteoclasts. PTHrP also inhibits osteoprotegerin secretion by osteoblastic cells, a decoy receptor of RANKL. |
|
|
Term
| What is the most common parathyroid lesion causing hyperparathyroidism? |
|
Definition
|
|
Term
| Primary hyperthyroidism: more common in children or adults? Men or women? |
|
Definition
|
|
Term
| What are the 3 syndromes associated with familial primary hyperparathyroidism? |
|
Definition
| MEN-1 (inactivation of tumor suppressor gene, also seen in sporadic cases), MEN-2 (activating mutation of RET, not seen in sporadic cases, primary hyperparathyroidism is component of MEN-2A), and familial hypocalciuric hypercalcemia (auto dom disorder due to inactivating mutation on CASR and decreased parathyroid sensitivity to calcium, not seen in sporadic cases). |
|
|
Term
| Most, if not all sporadic parathyroid adenomas are ___clonal. |
|
Definition
|
|
Term
| What are the two molecular defects described in sporadic parathyroid adenomas? |
|
Definition
| cyclin D1 inversion and MEN1 mutations |
|
|
Term
| Parathyroid adenoma: Usually solitary or multiple? Gross characteristics? What do the other glands look like? What is the uncommon variant? Mitotic figures? Pleomorphic nuclei? Adipose tissue? |
|
Definition
| solitary, well-circumscribed soft tan to reddish-brown with delicate capsule, glands outside the adenoma are normal or shrunken, oxyphil adenomas, mitotic figures rare, not uncommon to see bizarre nuclei - endocrine atypia, adipose is inconspicuous |
|
|
Term
| What condition is described? Occurs sporadically or as a component of MEN syndrome, classically involves all 4 glands but there may be asymmetry, most common pattern is chief cell hyperplasia, stromal fat is inconspicuous |
|
Definition
| parathyroid primary hyperplasia |
|
|
Term
| What condition is described? What are the diagnostic criteria? One enlarged parathyroid gland, gray-white irregular mass, cells usually uniform and resemble normal cells, nodular or trabecular pattern with dense fibrous capsule enclosing the mass. |
|
Definition
| parathyroid carcinoma, invasion of surrounding tissues and mets |
|
|
Term
| What are the skeletal changes associated with hyperparathyroidism? |
|
Definition
| increased osteoblasts and osteoclasts, erosion of bone matrix, formation of new trabeculae, may look like osteoporosis, severe cases have "brown tumors" (aggregates of osteoclasts, giant cells, hemorrhagic debris) and osteitis fibrosa cystica |
|
|
Term
| What syndrome is associated with painful bones, renal stones, abdominal groans and psychic moans? |
|
Definition
| symptomatic primary hyperparathyroidism |
|
|
Term
| What causes secondary hyperparathyroidism? |
|
Definition
| Any condition that gives rise to hypocalcemia, most commonly renal failure |
|
|
Term
| Describe the parathyroid morphology with secondary hyperparathyroidism. |
|
Definition
| hyperplastic glands, increased numbers of chief cells, or water-clear cells, fat cells are decreased |
|
|
Term
| Vascular calcification in which disorder can lead to calciphylaxis? Patients with this disorder often respond to what treatment? If this disorder becomes excessive, what is the result? |
|
Definition
| secondary hyperparathyroidism, Vit D supplements and phosphate binders. Tertiary hyperparathyroidism |
|
|
Term
|
Definition
|
|
Term
| Autoimmune hypoparathyroidism is associated with which other symptoms? What is this called? What is the cause? |
|
Definition
| mucocutaneous candidiasis, primary adrenal insufficiency. APS1. Mutation in AIRE gene. |
|
|
Term
| GOF mutation in CASR gene causes... |
|
Definition
| autosomal-dominant hypoparathyroidism |
|
|
Term
| Autosomal dominant FIH (familial associated hypoparathyroidism) is caused by... |
|
Definition
| mutation in PTH precursor gene |
|
|
Term
| Autosomal recessive FIH (familial associated hypoparathyroidism) is caused by... |
|
Definition
| LOF mutations in TF glial cells missing-2 (GCM2), essential for development of parathyroid |
|
|
Term
| Congenital absence of the parathyroid can occur as a part of which syndrome? |
|
Definition
|
|
Term
| The hallmark of hypocalcemia is _____. What are the two clinical signs? |
|
Definition
| tetany. Chvostek and Trousseau signs. |
|
|
Term
| How does hypocalcemia lead to calcifications?? |
|
Definition
| increase in phosphate levels, resulting in tissue deposits with locally produced calcium |
|
|
Term
| Hypocalcemia can cause what EKG abnormality? |
|
Definition
|
|
Term
| If you find dental hypoplasia, failure of tooth eruption, defective enamel and root formation, and abraded carious teeth, what might you suspect? |
|
Definition
| hypocalcemia during early development, possibly caused by hypoparathyroidism |
|
|
Term
| End organ resistance to the actions of PTH cause... |
|
Definition
| pseudohypoparathyroidism. |
|
|
