Chapter 24- Adrenal, MEN, And Pineal Flashcards
What is the most common cause of cushing syndrome
Cushing disease (aka primary pituitary adenoma)
What are the tumors that can cause primary adrenal disease
10% adenoma
5% carcinoma
What is the size of the adrenal gland in the case of ectopic sources of cortisol and steroids
Atrophy
What is the size of the adrenal gland in the cause of ACTH dependant Cushing syndrome
Large
What is the difference between an adrenal cortical adenoma and carcinoma
The size, with greater than 200 grams being a carcinoma
What is Conn’s syndrome
Primary hyperaldosteronsim
What are the findings in Conn’s syndrome
aka Primary hyperaldosteronism
- Hypertension
- Hypokalemia
- Hypomagnesemia
What is the reason for hypertension in Conn’s syndrome
Aka hyperaldosteronism
-Refractory hypertension with increased sodium and water uptake in the kidney
What are some of the common causes for secondary hyperaldosteronism
- Diuretic use
- Decreased renal perfusion
- Arterial hypovolemic
- Pregnancy
- Renin secreting tumors
Which patients are seen to have aldosterone secreting adenomas
-Young Patients 30-40s
What are the size of aldosterone secreting adenoma
Small <2 cm
What are the histological findings in the case of aldosterone secreting adenoma
Spironolactone bodies
What are patients with aldosterone secreting adenomas at a higher risk of developing
-Ischemic heart disease
What should you investigate as the cause of high levels of plasma renin and aldosterone
Secondary hyperaldosteronism
What should you investigate as the cause of low levels of renin and aldosterone concentrations
Hyperaldosterone mimickers
What should you investigate as the cause of low levels of renin, but high levels of aldosterone
Primary hyperaldosteronism
What is the method of a pituitary causing virilization
ACTH stimulation of androgens
What are the adrenal causes of virilization
- Primary adrenal neoplasms (adenoma and carcinoma)
- Congenital adrenal hyperplasia (CAH)
What is the most common adrenal neoplasm that causes virilization
Carcinoma
What is the inheritance of congenital adrenal hyperplasia (CAH)
-Autosomal recessive
What is the cause of congenital adrenal hyperplasia
Defective enzyme in the steroidogensis
- 95% is caused by lack of 21-hydroxylase
- Causes lack of mineral and clucocorticoids, so just all androgens
What is the presentation of congenital adrenal hyperplasia
- Lack of 21 hydroxylase
- Salt wasting ( no mineralcoriticoiuds) resulting in hyponatremia, hyperkalemia, and hypotension
-Virilization (at birth) in workmen
What is the long term effect of adrenomedullary dysplasia
Hypotension (Lack of aldosterone)
What is a method for testing for congenital adrenal hyperplasia
- serum 17-hyroxyprogesterone levels
- ACTH stimulation test, as increasing ATCH will result in more androgens and no other product
What is the therapy for congenital adrenal hyperplasia
Glucocorticoids to replenish cortisol
Mineralcorticoid as necessary
What are the two very very general causes of primary adrenocortical insufficiency
- Loss of cortical cells
- Metabolic failure in hormone production
What are the some of the causes of cortical cell loss that leads to primary insufficiency
- Autoimmune
- infection (TB, Fungi)
- Waterhouse friderichsen (adrenal hemorrhage)
- Amyloidosis, sarcoidosis, hemochromatosis
- Metastatic carcinoma
What are the some of the causes of metabolic failure in hormone production that leads to primary adrenalcorticol insufficiency
- Congenital adrenal hyperplasia (CAH)
- Drug or steroid induced inhibition of ACTH or cortisol cell function
What is Waterhouse Friderichsen syndrome
-Adrenal hemorrhage, usually resulting in sepsis
What are the signs of acute adrenal insufficiency
- Hypotension
- Abdominal Pain
- Fever
- Nausea/Vomiting
- Hyponatremia
- Hypoglycemia
What are the signs of primary chronic adrenocortical insufficiency
- Long duration of malaise, fatigue
- Anorexia and weight loss
- Joint pain
- Hyperpigmentation of skin
What is the infection can can commonly cause primary chronic adrenocortical insufficiency worldwide
TB
What is the most common cause of primary chronic adrenocortical insufficiency in developed countries
Autoimmune
Autoimmune polyendocrine syndrome type 1 is due to which mutation
AIRE
What are the typical endocrine glands that are affected in Autoimmune polyendocrine syndrome type 1
- Adrenalitis (usually the cause of death)
- Parathyroiditis (usually the first presenting)
- hypogonadism
- pernicious anemia
What are the other effects of Autoimmune polyendocrine syndrome type 1 commonly seen
Ectodermal dystrophy
-Mucocutaneous candiadisis (Abs against IL-17 and IL-22)
What are the clinical presentations in someone with autoimmune polyendocrine syndrome type 1
- Pointed teeth or baby teeth look
- brittle hair
- lack of ability to sweat
- salivary secretions decreased
- Nail beds may be lacking
*Also lack of PTH and with hypoaldrenalism
What are the presentations in a patient with Autoimmune polyendocrine syndrome type 2
- Adrenalitis
- Thyrpiditis
- T1DM
What is the relation of adrenals to metastasis
Metastasis is commonly see in bilateral adrenals because they are so highly vascularized. Therefore they are common sites for metastasis to end up
What is the cause to TB leading to chronic adrenal insufficiency
- TB causes caseating granulomas in the adrenal gland
- Adrenal gland has necrosis and fibrosis and loss of function
What type of chronic adrenal insufficiency is likely to be present if there are lymphocytic infilitration
Autoimmune
What is the difference between cortical adenomas and carcinomas
The size, with adenomas being smaller and carcinomas being larger with the ability to compress adjacent structures
***Carcinomas can also cause virilization with increased production of androgens
What is the cell type that makes up the adrenal medulla
Chromaffin cells from NC cells
What are the products of the adrenal medulla and which brand of the ANS is controlling it
Secretes Epi and Norepinephrine
*Under SNS control
What are the rule of 10’s in a phepchromocytoma
10% are:
- Extra adrenal (paraglanlioma)
- Bilateral
- Kids
- Malignant
- Not associated with hypertension
What percentage of pheochromocytomas are familial
25%
What factor is seen in >90% of pheochromocytomas
Hypertension
What is the classic triad for pheochromocytomas
- Headache
- Palpitations
- Diaphoresis (sweating)
In those patients with chronic pheochromocytomas, what is the complication seen
Cardiomyopathy
What is the method used to diagnosis pheochromocytomas
Urine and plasma metanephrines
What is the prognosis of an adrenal myelolopomas
Benign (just fat and bone marrow)
How can a myelolipoma commonly present
Hemorrhage
What is the testing done for adrenal incidentalomas
Postive functional assays:
- Dethamexasone suppression test for hypercorticolism
- Pheochromocytomas
What is the gene mutated in MEN 1
Tumor suppressor gene Menin
What are the neoplasms seen in MEN 1
- Parathyroid (primary hyperPTH)
- Pancreatic (usually insulinomas or gastrinomas)
- Pituitary (adenomas-lactotroph and somatotrophs)
What is the gene mutated in MEN 2A
RET gain of function in proto-oncogene
What are the neoplasms seen in MEN 2A
- Pheochromocytomas
- Medullary thyroid carcinooma
- Parathyroid hyperplasia
What are the neoplasms seen in MEN 2B
- Pheochromocytomas
- Medullary thyroid carcinomas
- Mucosal neuromas
What conditions is commonly seen in MEN2B that is not part of the normal neoplasms seen
Marfan like syndrome in almost 100% of pts
What is the gene mutated in familial medullary thyroid carcinoma
RET gain of function Proto-oncogene
What tends to be the prognosis of MEN syndromes
Not good, as they tend to be aggressive and recurrent
What are the generalities of MEN syndromes
- Tumors in younger patients
- Bilateral and multiple
- Hyperplasia precedes
What are the tumors seen in the pineal gland
- germ cell tumors
- Pineocytoma
- Pineoblastoma
