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

Adrenal pathology Flashcards by Cassie Dasmarinas

What presents with Primary hyperaldosteronism (Conn’s syndrome)

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

Hypokalemia
Hypomagnesemia

How well did you know this?

Not at all

Perfectly

Secondary hyperaldosteronism

edit

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

How well did you know this?

Not at all

Perfectly

Describe an aldosterone-secreting adenoma

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

How well did you know this?

Not at all

Perfectly

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

steroidogenesis

How well did you know this?

Not at all

Perfectly

What are 90-95% of CAH cases caused by

21-hydroxylase deficiency

How well did you know this?

Not at all

Perfectly

What is a 21 hydroxylase deficiency known as

salt wasting syndrome

How well did you know this?

Not at all

Perfectly

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

◦ Salt wasting –> hyponatremia
◦ Hyperkalemia
◦ Hypotension

How well did you know this?

Not at all

Perfectly

How does a complete 21 hydroxylase deficiency present in only females

virilization (seen at birth)

How well did you know this?

Not at all

Perfectly

Describe Simple virilizing syndrome (without salt wasting)

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

Virilization

How well did you know this?

Not at all

Perfectly

Describe Nonclassic/Late onset adrenal virilism

Most common

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

How well did you know this?

Not at all

Perfectly

How do you diagnose CAH?

Serum 17-hydroxyprogesterone

increases with severity

How well did you know this?

Not at all

Perfectly

What is extremely important for diagnosis of CAH

Heel stick

How well did you know this?

Not at all

Perfectly

Therapy for CAH

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

How well did you know this?

Not at all

Perfectly

Causes of primary adrenocortical insufficiency

Loss of cortical cells

* Defect in hormonogenesis

How well did you know this?

Not at all

Perfectly

Causes of secondary adrenocortical insufficiency

Hypothalamic-pituitary disease

* HPA suppression by extra-adrenal steroid source

How well did you know this?

Not at all

Perfectly

Possible causes of primary acute adrenocortical insufficiency

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

How well did you know this?

Not at all

Perfectly

How does adrenal crisis present

Hypotension
Hyponatremia
Hyperkalemia

How well did you know this?

Not at all

Perfectly

What pathogen is associated with waterhouse friderichsen syndrome

neisseria meningitidis

symptoms of acute adrenal insufficiency

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

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

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

What is Nelson disease

What is noticable symptom

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

Increased pigmentation from ACTH(?)

What causes most cases of primary hypoadrenalism in the US

Autoimmune adrenalitis

Mutation responsible for AUTOIMMUNE POLYENDOCRINE

SYNDROME TYPE 1

Mutation in AIRE gene

Symptoms of AUTOIMMUNE POLYENDOCRINE

SYNDROME TYPE 1

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

APECED

Symptoms of AUTOIMMUNE POLYENDOCRINE | SYNDROME TYPE 2

Adrenalitis Thyroiditis Type 1 diabetes mellitus

Presentation of Adrenocortical Insufficiency

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

How do you test for adrenocortical insufficiency

* Random cortisol | * ACTH-stimulation test

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

Size adrenal cortical carcinoma weighs >200g

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

Compression/invasion of adjacent structures virilizing

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

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

How do pts present with pheochromocytoma

profound hypertension

What do pheochromocytomas secrete

Catecholamines

What rules are associated with pheochromocytoma?

``` 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!

What is the classic triad of pheochromocytoma

◦ Headache ◦ Palpitations ◦ Diaphoresis

What are compliactions of acute and chronic pheochromocytoma

◦ Acute – related to catecholamine surges ◦ Chronic – cardiomyopathy

How to diagnose a pheochromocytoma

Urine and plasma metanephrines

Describe a myelolipoma

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

How do you decide what to do with an adrenal incidentaloma

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

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

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

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

Pheochromocytoma Medullary thyroid carcinoma Parathyroid hyperplasia

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

Medullary thyroid carcinoma Pheochromocytoma Mucosal neuromas

Medulary thyroid carcinoma is associated with what mutation

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

Generalities of MEN syndromes

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