Adrenal pathology

Question 1

What presents with Primary hyperaldosteronism (Conn’s syndrome)

Answer 1

1. Hypertension
◦ Refractory hypertension
◦ Adrenal mass and hypertension
◦ Hypertension at a young age
◦ Severe hypertension (>160/100 mmHg)

2. Hypokalemia
3. Hypomagnesemia

Question 2

Secondary hyperaldosteronism

edit

Answer 2

Renin-Angiotensin-Aldosterone system
◦ Diuretic use
◦ Decreased renal perfusion
◦ Arterial hypovolemia
◦ Pregnancy
◦ Renin-secreting tumors

Question 3

Describe an aldosterone-secreting adenoma

Answer 3

1. May be very small (<2 cm)
2. Young patients 30s-40s
3. Spironolactone bodies (from treatment)
4. High incidence of ischemic heart disease

Question 4

What is the defective enzyme of Congenital Adrenal Hyperplasia (CAH) responsible for

Answer 4

steroidogenesis

Question 5

What are 90-95% of CAH cases caused by

Answer 5

21-hydroxylase deficiency

Question 6

What is a 21 hydroxylase deficiency known as

Answer 6

salt wasting syndrome

Question 7

What is the presentation of a complete 21 hydroxylase deficiency in males and females?

Answer 7

◦ Salt wasting –> hyponatremia
◦ Hyperkalemia
◦ Hypotension

Question 8

How does a complete 21 hydroxylase deficiency present in only females

Answer 8

virilization (seen at birth)

Question 9

Describe Simple virilizing syndrome (without salt wasting)

Answer 9

Partial lack of enzyme (hydroxylase)
◦ Some mineralocorticoids
◦ Small amount of cortisol, not enough to prevent ACTH overproduction

Virilization

Question 10

Describe Nonclassic/Late onset adrenal virilism

Answer 10

Most common

Partial lack of 21-hydroxylase
◦ Precocious puberty
◦ Acne and hirsutism at time of puberty

Question 11

How do you diagnose CAH?

Answer 11

Serum 17-hydroxyprogesterone

increases with severity

Question 12

What is extremely important for diagnosis of CAH

Answer 12

Heel stick

Question 13

Therapy for CAH

Answer 13

1. Glucocorticoids
   - Replenishes cortisol
   - Provides negative feedback for ACTH suppression
   - No further overstimulation of androgen production
2. Mineralocorticoids as necessary

Question 14

Causes of primary adrenocortical insufficiency

Answer 14

• Loss of cortical cells

* Defect in hormonogenesis

Question 15

Causes of secondary adrenocortical insufficiency

Answer 15

• Hypothalamic-pituitary disease

* HPA suppression by extra-adrenal steroid source

Question 16

Possible causes of primary acute adrenocortical insufficiency

Answer 16

1. Adrenal crisis
2. Rapid withdrawal of steroids
3. Massive adrenal hemorrhage (Waterhouse-Friderichsen syndrome)
4. Stress, infection, trauma, burns

Question 17

How does adrenal crisis present

Answer 17

• Hypotension
• Hyponatremia
• Hyperkalemia

Question 18

What pathogen is associated with waterhouse friderichsen syndrome

Answer 18

neisseria meningitidis

Question 19

symptoms of acute adrenal insufficiency

Answer 19

Hypotension (refractory to volume repletion)
Abdominal pain
Fever
Nausea/vomiting
Hyponatremia
Hypoglycemia

Question 20

Signs of Primary chronic adrenocortical insufficiency (Addison’s disease)

Answer 20

• Long duration of malaise, fatigue
• Anorexia and weight loss
• Joint pain
• Hyperpigmentation of skin

Question 21

What is Nelson disease

What is noticable symptom

Answer 21

Pituitary tumor caused by the removal of adrenal glands for cushing disease

Increased pigmentation from ACTH(?)

Question 22

What causes most cases of primary hypoadrenalism in the US

Answer 22

Autoimmune adrenalitis

Question 23

Mutation responsible for AUTOIMMUNE POLYENDOCRINE

SYNDROME TYPE 1

Answer 23

Mutation in AIRE gene

Question 24

Symptoms of AUTOIMMUNE POLYENDOCRINE

SYNDROME TYPE 1

Answer 24

◦ Adrenalitis
◦ Parathyroiditis
◦ Hypogonadism
◦ Pernicious anemia
◦ Mucocutaneous candidiasis
(Ab against IL-17 and IL-22)
◦ Ectodermal dystrophy

APECED

Question 25

Symptoms of AUTOIMMUNE POLYENDOCRINE | SYNDROME TYPE 2

Answer 25

Adrenalitis Thyroiditis Type 1 diabetes mellitus

Question 26

Presentation of Adrenocortical Insufficiency

Answer 26

``` Lack of corticosteroids: ◦ Vague malaise ◦ Nausea/vomiting ◦ Hypoglycemia ◦ Refractory hypotension ``` Lack of mineralocorticoids ◦ Hyperkalemia ◦ Hyponatremia

Question 27

How do you test for adrenocortical insufficiency

Answer 27

* Random cortisol | * ACTH-stimulation test

Question 28

What is the most important distinction between an adenoma and a carcinoma

Answer 28

Size adrenal cortical carcinoma weighs >200g

Question 29

What is unique to the presentations of carcinomas (in comparison to an adenoma)

Answer 29

Compression/invasion of adjacent structures virilizing

Question 30

What is the adrenal medulla composed of? what is it responsible for?

Answer 30

Comprised of Chromaffin cells deriving from the neural crest Responsible for catecholamine secretion

Question 31

How do pts present with pheochromocytoma

Answer 31

profound hypertension

Question 32

What do pheochromocytomas secrete

Answer 32

Catecholamines

Question 33

What rules are associated with pheochromocytoma?

Answer 33

``` 10% rule ◦ 10% are extra-adrenal (paraganglioma) ◦ 10% are bilateral ◦ 10% in kids ◦ 10% are malignant ◦ Can only tell by metastasis ◦ 10% are not associated with hypertension ``` 25% rule: 25% are familial!

Question 34

What is the classic triad of pheochromocytoma

Answer 34

◦ Headache ◦ Palpitations ◦ Diaphoresis

Question 35

What are compliactions of acute and chronic pheochromocytoma

Answer 35

◦ Acute – related to catecholamine surges ◦ Chronic – cardiomyopathy

Question 36

How to diagnose a pheochromocytoma

Answer 36

Urine and plasma metanephrines

Question 37

Describe a myelolipoma

Answer 37

Benign ◦ Fat ◦ Bone marrow Vary in size Can present with hemorrhage

Question 38

How do you decide what to do with an adrenal incidentaloma

Answer 38

Proper management depends on many factors: > 4 cm Positive functional assays ◦ Dexamethasone suppression test for hypercortisolism ◦ Pheochromocytoma CT enhancement characteristics

Question 39

Germline mutation in the MEN1 tumor suppressor gene is associated with what issues?

Answer 39

``` Primary hyperparathyroidism Pancreatic endocrine tumors Pituitary adenomas ◦ Lactotroph ◦ Somatotroph (“3 P’s) ``` Gastrinomas - duodena

Question 40

Germline gain-of-function mutation in the RET proto-oncogene is associated with what issues? MEN 2A

Answer 40

Pheochromocytoma Medullary thyroid carcinoma Parathyroid hyperplasia

Question 41

Germline gain-of-function mutation in the RET proto-oncogene (specific point mutation) MEN 2B

Answer 41

Medullary thyroid carcinoma Pheochromocytoma Mucosal neuromas

Question 42

Medulary thyroid carcinoma is associated with what mutation

Answer 42

Germline gain-of-function mutation in the RET proto-oncogene (specific mutations)

Question 43

Generalities of MEN syndromes

Answer 43

Patients develop tumors at younger age Tumors are more likely to be bilateral/multiple Preceding hyperplasia is often seen Tumors tend to be aggressive and recurrent