Congenital Adrenal Hyperplasia Flashcards Preview

Endocrinology > Congenital Adrenal Hyperplasia > Flashcards

Flashcards in Congenital Adrenal Hyperplasia Deck (26):
1

How does ACTH receptor work?

GPCR: increases cAMP-->StAR protein and cholesterol transport into mitochondria

2

StAR Protein function

Steroidogenic acute regulatory: cholesterol translocation from cytoplasm to mitochondria

3

21-Hydroxylase defect

Glucocorticoid and mineralocorticoid deficiency Leads to build-up of CAH

4

11-ß-OH defect

Leads to buildup of cortisol precursors-->CAH

5

Function of Adrenal Androgens

Pubic hair development in males/females

6

What are symptoms of adrenal insufficiency

Nausea/vomiting, Fatigue, Hyperpigmentation, Hypoglycemia, Hyponatremia/hyperkalemia, Muscle weakness, poor weight gain, anorexia

7

Presentation of classic CAH: 21-hydroxylase deficiency

GC and MC deficiency
Adrenal androgen excess
Ambiguous genitalia in females/postnatal virlization in males

8

Diagnosis

Symptoms
Steroid profile

9

Treatment for Adrenal insufficiency

GC replacement: Hydrocortisone with increased coverage for stress, illness
MC replacement: fludrocortisone (florinef)

10

CAH: Severe "Salt wasting" Presentation (males vs. females)

Adrenal crisis in first 2 weeks

Males: no physical signs or penile enlargement
Female: postnatal virilization, ambiguous genitalia

11

Treatment of Salt Wasting CAH

Glucocorticoids
Mineralocorticoids

12

What are symptoms of simple virilizing?

Pubic/axillary/pubic hair
Penile/clitoral enlargement
GU anomalies
BO
Growth acceleration with bone age advancement

13

Treatment for Simple virilizing

Hydrocortisone

14

Non-classical CAH Presentation (4)

Early pubic hair development
Growth acceleration
Women: hirsutism, abnormal menses, acne (like PCOS)
Infertility (13% patients)

15

How do heterozygotes of CAH present?

No hyperandrogenism
No treatment indicated

16

How do you diagnosis CAH? (3)

Elevated 17-OH-progesterone (substrate of 21-hydroxylase)
Cosyntropin stimulation test-- see lots of 17-OHP, no cortisol
Genotype

17

How is most CAH detected?

Detect salt-wasters via statewide newborn screening of 17-OHP

18

What is presentation of 11-ß-hydroxylase deficiency? (2)

Hypertension due to increased precursors with mineralocorticoid activity (HTN key)
Genital abnormalities similar to 21-hydroxylase

19

How can you distinguish 21-hydroxylase deficiency from 11-ß-hydroxylase deficiency?

Hypertension (11-ß; mineralocorticoid activity) vs. hypotension (21-OH)

20

Diagnosis of 11ßhydroxylase deficiency

High 11-DOC, high androgens

21

Treatment of 11ßhydroxylase deficiency (2)

Glucocorticoids and antihypertensive

22

3ß-hydroxysteroid dehydrogenase deficiency: Presentation (1) + males vs. females

Symptoms of glucocorticoid and mineralocorticoid deficiency

Females: mild virilization due to high DHEA
Males: ambiguous genitalia

23

3ß-hydroxysteroid dehydrogenase deficiency: Treatment (3)

Glucorticoid replacement
Mineralocorticoid replacement
Testosterone

24

17 hydroxylase: presentation

Decreased cortisol, increased ACTH

25

17,20 lyase deficiency: presentation

Decreased DHEA, androstenedione

26

StAR Deficiency: Presentation (3)

Salt wasting adrenal crisis within 1st month
Female phenotype regardless of genotype
High mortality