Chapter 21: Adrenal Cortex Flashcards
Female patient presents with pseudohermaphroditism, infertility, salt wasting, and short stature.
Blood serum shows low cortisol, low aldosterone, high ACTH, and high androgens.
21 Hydroxylase deficiency -> Congenital adrenal hyperplasia.
Loss of aldoesterone and cortisol production.
Male patient presents with short stature, elevated androgens, sodium retention and hypertension.
Serum shows low cortisol, high ACTH, and high androgens.
11B-hydroxylase deficiency -> congenital adrenal hyperplasia.
Patient presents with weakness, weight loss, anorexia, GI symptoms, hypotension, psychiatric changes, and hyperpigmentation.
ACTH does not solve the problem.
Primary Adrenal Cortex Insufficiency -> Addison’s disease. Autoimmune destruction of gland.
TB and waterhouse-freidrichson (post-Meningococcus) can also do this.
Patient presents with hypotension, shock, nausea and vomiting. Cortisol levels are low.
Adrenal crisis (sudden loss of glucocorticoid).
Type 1 polyglandular syndromes…
Onset in?
Common features are?
Mutation in what gene?
Onset: Adolescence
Feature: HypoPTH, candida infections, type 1 diabetes
AIRE gene mutation, defective self-tolerance
Type 2 polyglandular syndromes…
Onset age?
Features?
Onset 20-40 years
Hashimoto’s/graves, Type 1 diabetes, premature ovarian failure.
Bilateral small black/brown nodules found in adrenal gland of a patient with Cushing’s syndrome
Bilateral adrenal cortical micronodular hyperplasia “Carney Complex”.
Mutation in tumor suppressor gene PRKAR1a.
Patient presents with diastolic hypertension with high sodium, low potassium, and metabolic alkalosis.
Conn syndrome - excess mineralocorticoid/aldosterone.
Type 1 familial hyperaldosteronism: Glucocorticoid responsive - ACTH stimulates aldosterone release, give exogenous glucocorticoids.
Patient presents with hypertensive attacks, arrhythmia, anxiety, diaphoresis.
Pheochromocytoma (adrenal medulla) or paraganglioma (outside gland).
Proliferation of chromaffin cells. Secrete epinephrine and norepinephrine. Increased levels of VMA, metanephrine, unconjugated catecholamines.
Zellballen. MEN2A/2B, VHL, NF1, McCune-Albright syndrome.
What is the gene mutated in MEN1?
What glands are affected?
Wermer’s syndrome - Menin protein mutation.
Pituitary adenoma, parathyroid hyperplasia/adenoma, pancreatic islet cell tumor.
What is the gene mutated in MEN2?
What glands are affected?
RET proto-oncogene.
Medullary thyroid carcinoma and pheochromocytoma.
MEN2A: Sipple syndrome. More common, hyperPTH, neural crest tumors (glioma, glioblastoma, meningioma). Hirschprung disease - megacolon.
MEN2B: Earlier development. Mucosal neuroma syndrome.
What is familial medullary thyroid carcinoma?
3> family members have in absence of MEN2A diseases.
RET mutation associated.
What is a neuroblastoma?
Enlarging abdomen in young child - hepatic mets with ascites.
Adrenal medulla or sympathetic ganglia origin.
Respiratory/urinary abnormalities. Urinary catecholamines, VMA.
Associated with N-myc mutation. Sheets of fusiform cells with dark nuclei + scant cytoplasm. Homer Wright rosettes.
What is a ganglioneuroma?
Benign neuroendocrine tumor, arise in sympathetic ganglia and occasionally adrenal medulla.
Encapsulated, myxoid, mature ganglion cells with spindle cells.
Schwannian stroma dominant.
What does the pineal gland secrete?
Melatonin, serotonin, arginine vasotocin. Calcifies with age.
