Disease of adrenal gland

Question 1

What is the most common cause of endogenous Cushing syndrome?

Answer 1

The most common cause of endogenous Cushing syndrome is Cushing disease, which involves primary hypothalamic-pituitary diseases, particularly pituitary adenomas.

Question 2

What percentage of Cushing syndrome cases are due to ectopic ACTH secretion?

Answer 2

About 10% of Cushing syndrome cases are due to ectopic ACTH secretion.

Question 3

What are the typical features of the adrenal glands in Cushing syndrome due to primary adrenocortical neoplasms?

Answer 3

In primary adrenocortical neoplasms causing Cushing syndrome, one adrenal gland is typically involved with a tumor, and the other gland may show atrophy due to suppression by cortisol from the neoplasm.

Question 4

What imaging studies are commonly used to diagnose Cushing syndrome?

Answer 4

CT or MRI scans are commonly used to visualize the adrenal glands and detect tumors or hyperplasia.

Question 5

What is Conn syndrome?

Answer 5

Conn syndrome is primary hyperaldosteronism caused by an aldosterone-producing adrenal adenoma.

Question 6

What are common signs and symptoms of hyperaldosteronism?

Answer 6

Common signs and symptoms include hypertension, muscle weakness, cramps, fatigue, and in severe cases, tetany and paresthesias due to hypokalemia.

Question 7

Which gene mutation is frequently associated with familial hyperaldosteronism type I?

Answer 7

Familial hyperaldosteronism type I is frequently associated with mutations in the CYP11B1 and CYP11B2 genes.

Question 8

How is hyperaldosteronism typically diagnosed?

Answer 8

Hyperaldosteronism is typically diagnosed through blood tests showing elevated aldosterone levels and suppressed plasma renin activity, along with imaging studies to identify adrenal gland abnormalities.

Question 9

What is the prevalence of 21-hydroxylase deficiency among CAH (Congenital Adrenal Hyperplasia) patients?

Answer 9

21-hydroxylase deficiency accounts for over 90% of congenital adrenal hyperplasia (CAH) cases.

Question 10

What is the typical genetic inheritance pattern of congenital adrenal hyperplasia?

Answer 10

Congenital adrenal hyperplasia (CAH) is inherited in an autosomal recessive pattern.

Question 11

How is congenital adrenal hyperplasia (CAH) managed clinically?

Answer 11

CAH is managed with glucocorticoid replacement therapy to suppress ACTH secretion and androgen production, and in some cases, mineralocorticoid replacement to correct electrolyte imbalances.

Question 12

What newborn screening test is used to detect congenital adrenal hyperplasia?

Answer 12

Newborn screening for CAH typically involves measuring 17-hydroxyprogesterone levels in the blood.

Question 13

What are the most common autoimmune diseases associated with Addison disease?

Answer 13

Addison disease is commonly associated with autoimmune thyroid disease (Hashimoto thyroiditis), type 1 diabetes mellitus, and pernicious anemia.

Question 14

What are the key laboratory findings in Addison disease?

Answer 14

Key laboratory findings in Addison disease include low serum cortisol levels, high ACTH levels, hyponatremia, hyperkalemia, and sometimes hypoglycemia.

Question 15

What is Waterhouse-Friderichsen syndrome?

Answer 15

Waterhouse-Friderichsen syndrome is a severe form of acute adrenal insufficiency characterized by massive adrenal hemorrhage, usually due to meningococcal septicemia, leading to adrenal crisis.

Question 16

What is the standard treatment for acute adrenal crisis?

Answer 16

The standard treatment for acute adrenal crisis includes immediate intravenous administration of hydrocortisone, fluid resuscitation, and correction of electrolyte imbalances.

Question 17

What is the hallmark of autoimmune adrenalitis in Addison disease (Chronic adrenal insufficiency)?

Answer 17

The hallmark of autoimmune adrenalitis in Addison disease is the presence of antibodies against adrenal cortex cells, often leading to lymphocytic infiltration and glandular destruction.

Question 18

What symptoms might indicate an impending adrenal crisis in a patient with Addison disease?

Answer 18

Symptoms indicating an impending adrenal crisis include severe abdominal pain, profound weakness, confusion, and hypotension unresponsive to standard treatment.

Question 19

What diagnostic test confirms Addison disease?

Answer 19

The ACTH stimulation test confirms Addison disease by showing a suboptimal rise in cortisol levels following ACTH administration.

Question 20

What are the characteristic skin changes seen in Addison disease?

Answer 20

Characteristic skin changes in Addison disease include hyperpigmentation, especially in areas exposed to friction, such as elbows, knees, knuckles, and mucous membranes.

Question 21

What are the three main categories of adrenocortical hyperfunction?

Answer 21

Cushing syndrome, Hyperaldosteronism, and Adrenogenital or virilizing syndromes.

Question 22

What type of tumors are common nonpituitary tumors producing ectopic ACTH?

Answer 22

Small-cell carcinoma of the lung, carcinoids, medullary carcinomas of the thyroid, and pancreatic neuroendocrine tumors (PanNETs).

Question 23

What are some clinical features of Cushing syndrome?

Answer 23

Hypertension, weight gain, truncal obesity, moon facies, buffalo hump, muscle weakness, diabetes, thin and fragile skin, stretch marks, osteoporosis, susceptibility to infections, hirsutism, menstrual abnormalities, psychiatric symptoms, and increased skin pigmentation.

Question 24

What causes hyperaldosteronism?

Answer 24

It is caused by an excess of mineralocorticoid.

Question 25

What characterizes primary hyperaldosteronism?

Answer 25

Autonomous overproduction of aldosterone, leading to suppressed activity of the renin-angiotensin system and decreased plasma renin levels.

Question 26

What are common causes of secondary hyperaldosteronism?

Answer 26

Decreased renal perfusion, arterial hypovolemia and edema, and pregnancy.

Question 27

What long-term effects are associated with hyperaldosteronism-induced hypertension?

Answer 27

Cardiovascular compromise, such as left ventricular hypertrophy, reduced diastolic volumes, and increased risk of adverse events like stroke and myocardial infarction.

Question 28

What are the main clinical features of hyperaldosteronism?

Answer 28

Hypertension and hypokalemia, which can lead to neuromuscular symptoms such as weakness, paresthesias, visual disturbances, and tetany.

Question 29

What are the treatment options for hyperaldosteronism?

Answer 29

Surgical removal of adenomas and the use of aldosterone antagonists such as spironolactone for bilateral hyperplasia.

Question 30

What leads to adrenogenital or virilizing syndromes? (CAH)

Answer 30

These syndromes are caused by an excess of androgens.

Question 31

What is congenital adrenal hyperplasia (CAH)?

Answer 31

It is a group of autosomal recessive disorders characterized by a hereditary defect in an enzyme involved in adrenal steroid biosynthesis, particularly cortisol production.

Question 32

What are the clinical features of CAH in infants?

Answer 32

Clitoral hypertrophy and pseudohermaphroditism.

Question 33

What are the clinical features of CAH in postpubertal girls?

Answer 33

Oligomenorrhea, hirsutism, and acne.

Question 34

What are the clinical features of CAH in males?

Answer 34

Enlargement of the external genitalia, signs of precocious puberty, underdeveloped Leydig cells, and oligospermia.

Question 35

What are the main causes of Addison disease?

Answer 35

Autoimmune adrenalitis, infections (such as tuberculosis and fungal infections), and metastatic neoplasms.

Question 36

What distinguishes primary from secondary adrenocortical insufficiency?

Answer 36

Primary adrenocortical insufficiency involves direct damage to the adrenal cortex, leading to reduced cortisol production, while secondary insufficiency is due to ACTH deficiency from the pituitary gland.

Question 37

What are the initial manifestations of adrenocortical insufficiency?

Answer 37

Progressive weakness, easy fatigability, gastrointestinal disturbances (such as anorexia, nausea, vomiting, weight loss, and diarrhea).

Question 38

What is the distinguishing feature of primary adrenocortical insufficiency?

Answer 38

Hyperpigmentation due to increased levels of ACTH precursor hormone stimulating melanocytes.

Question 39

What electrolyte imbalances are observed in primary adrenal insufficiency?

Answer 39

Hyperkalemia, hyponatremia, volume depletion, and hypotension.

Question 40

What are the most common autoimmune diseases associated with Addison disease?

Answer 40

Addison disease is commonly associated with autoimmune thyroid disease (Hashimoto thyroiditis), type 1 diabetes mellitus, and pernicious anemia.