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Week 27: Adrenal Dysfunction > Intro to CAH > Flashcards

Flashcards in Intro to CAH Deck (23)
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1

Congenital adrenal hyperplasia

Autosomal recessive disorders involving the steroidogenic pathway
Most result in decreased cortisol secretion
POMC and ACTH are elevated (causes hyperpigmentation and adrenal hypertrophy)
The enzyme blocks can result in alterations of androgen production (leading to DSD)
Symptoms are related to deficiencies of end-products as well as accumulation of precursor steroids proximal to the block

2

CAH clinical presentations

Salt-losing crisis
Disorder of sexual development
Peripheral precocious puberty
HTN in rare subtypes
Delayed or absent puberty in rare subtypes
An abnormal newborn screen

3

Salt losing crisis presentation

History of progressive failure-to-thrive
Lethargy
Vomiting
Dehydrated, may present with shock
Arrhythmias secondary to hyperkalemia
Hypoglycemia

4

Salt losing crisis acute management

Resuscitation with normal saline bolus, followed by an infusion of D10NS
Draw blood for 17-hydroxyprogesterone and electrolytes
Give a stat dose of HC IV
ECG monitoring if K is excessively high
In some cases, treatment with Kayexalate may be needed to decrease the K

5

Where are steroids produced in the cell?

Mitochondria

6

What protein does the steroid use to get into the mitochondria?

StAR protein

7

Steroids can go into paths that result in what 3 hormones

Aldosterone
Cortisol
Androstenedione

8

What is the most common enzyme block?

21-hydroxylase

9

What are the 3 most common enzyme blocks?

21-hydroxylase
11B-hydroxylase
3BHSD2

10

The presence of what 2 hormones causes male differentiation?

AMH
Testosterone

11

Wolffian system causes the development of what 4 things

Epidiymis
Vas deferens
Seminal vesicles
Ejaculatory ducts

12

Mullerian ducts cause the development of what 3 things

Fallopian tubes
Uterus
Upper vagina

13

When does external genitalia
1. Begin differentiating
2. Become recognizable

1. 8 weeks
2. 3 months

14

Function of DHT

Causes fusion of the urethral and labioscrotal folds, growth of the genital tubercle, and prostate
Inhibits growth of the vesicovaginal septum (vagina)

15

Androgen exposure after 12 weeks

Vagina has formed
After 12 weeks androgen exposure cannot cause fusion of the labioscrotal and urethra folds

16

Classic 21-hydroxylase deficiency clinical presentation

Females will present with genital ambiguity
Salt losing crises occur in the 2nd week of life
Infants are now picked up on the newborn screen

17

Simple virilizing 21-hydroxylase deficiency presentation

Milder enzyme defect
They can make adequate amounts of aldosterone (no salt losing crisis)
Girls often have mild genital ambiguity
Both sexes present as a toddler with pubic hair development, growth acceleration, and an advanced bone age

18

Late onset 21-hydroxylase deficiency presentation

Mild enzyme block
There is adequate cortisol and aldosterone production
There is excess adrenal androgen production
They may present with premature pubarche
Girls may have hirsutism
There may be irregular menses or a PCOS-like picture

19

21-hydroxylase deficiency diagnostic tests

Measuring a 17-hydroxyprogesterone level at presentation is often diagnostic (but levels can be elevated in the 1st 48-72 hours after birth)
In some of the milder forms, ACTH-stimulated 17-OHP levels are required

20

21-hydroxylase deficiency treatment

HC replacement
Will need stress dose HC at diagnosis, during illness, and surgeries
Classic form: fludrocortisone and salt supplementation
Girls with virilization may need gynae surgery
Psych support for families

21

11-hydroxylase deficiency clinical features

Female infants present with genital ambiguity
Infants may have failure to thrive
Infants may present with an adrenal crisis
Enzyme block leads to increased levels of DOC which causes salt retention and HTN
Neonates are resisitant to mineralocorticoids (may have transient salt loss)

22

3B-hydroxysteroid dehydrogenase deficiency

Deficiency in cortisol and aldosterone
Excessive DHEA
Inadequate amounts of androstenedione or testosterone
Female infants have clitoromegaly
Male infants have incomplete virilization

23

3B-hydroxysteroid dehydrogenase deficiency treatment

HC replacement
Will need stress dosing at diagnosis and for illness
Fludrocortisone
Salt supplementation during infancy
Males will need test replacement in the neonatal period as well as at puberty
Girls often need estrogen replacement at puberty