Endocrine - Diseases Flashcards
MEN-1 (Wermer Syndrome)
Autosomal dominant
Characterized by 3Ps - Parathyroid adenoma + Pituitary adenoma (prolactin or GH) + Pancreatic tumor (Gastrinoma, insulinoma)
Commonly presents with kidney stones and stomach ulcers
MEN-2A (Sipple Syndrome)
Autosomal dominant condition; associated with ret gene mutation
Medullary Carcinoma of Thyroid
Pheochromocytoma
Parathyroid adenoma
MEN-2B
Autosomal dominant condition; associated with ret gene mutation
Medullary Carcinoma of Thyroid
Pheochromocytoma
Mucosal neuromas
Central Diabetes Insipidus
Decreased ADH release from the posterior pituitary caused by pituitary tumor, trauma, surgery, autoimmune destruction
Presents as intense thirst, polyuria, inappropriately dilute urine; urine specific gravity < 1.006, serum osmolarity > 290 with hypernatremia
Characterized by decreased serum ADH; water restriction test shows > 50% increase in urine osmolarity
Treated with DDAVP
Nephrogenic Diabetes Insipidus
Renal resistance to ADH; caused by hereditary ADH receptor mutation, Drugs (Lithium, Demeclocycline)
Presents as intense thirst, polyuria, inappropriately dilute urine; urine specific gravity < 1.006, serum osmolarity > 290 with hypernatremia
Characterized by normal ADH levels; water restriction test shows no change in urine osmolarity
Treated with HCTZ, indomethacin, amiloride
Neuroblastoma
Most common solid malignant tumor occurring outside of the cranium in children; most common tumor of the adrenal medulla in children, although can occur anywhere along the sympathetic chain
Presents with abdominal distension and a palpable abdominal mass
Findings: Elevated urinary catecholamines (HVA), biopsy shows small, round, hyperchromatic nuclei forming pseudorosettes around primitive nerve fibers
Associated with overexpression of n-myc oncogene
Papillary Carcinoma of Thyroid
Most common thyroid cancer. Increased risk with childhood irradiation; excellent prognosis
Genetics: Associated with Ret and BRAF mutations
Histology: Cells with empty-appearing nuclei (“Orphan Annie” eyes), psammoma bodies, nuclear grooves
Follicular Carcinoma of Thyroid
Neoplastic follicular cells invading the thyroid capsule (unlike follicular adenoma); good prognosis
Medullary Carcinoma of Thyroid
Arises from calcitonin-producing parafollicular “C” cells
Histology: Solid sheets of cells in an amyloid stroma
Associated with MEN2A and MEN2B (Ret mutations)
Anaplastic Carcinoma of Thyroid
Seen mostly in olderly/elderly patients
Invades into local structures; poor prognosis
Subacute (de Quervain’s) Thyroiditis
Self-limited hypothyroidism, often occurring following a flu-like illness
Presents with very tender thyroid (vs. Hashimoto’s) and jaw pain
Histology shows granulomatous inflammation
Carcinoid Syndrome
Caused by metastasis of 5-HT secreting neuroendocrine cells from the small bowel to liver where secreted 5-HT avoids first pass metabolism
Presents as episodic diarrhea, cutaneous flushing, asthmatic wheezing; + right sided valvular disease
Labs: Elevated 5-HIAA in urine
Treated with surgical resection of the tumor, Octreotide
Adrenocorticol Insufficiency
AKA Hypo-osmotic volume contraction
Characterized by low serum osmolality, hyponatremia/hyperkalemia/metabolic acidosis (due to decreased action of aldosterone) and hypoglycemia/hypotension (due to decreased action of cortisol)
Pheochromocytoma
Most common tumor of adrenal medulla in adults; derived from chromaffin cells, hypersecretes catecholamines (Epi, NE, DA)
Presents with episodic HTN, palpitations, headache, diaphoresis, and anxiety
Diagnosed by increased urinary metanephrines
Treated with non-specific alpha blockers (phenoxybenzamine) followed by B-blockers followed by tumor resection
Associated with VHL, MEN2A and MEN2B
