REI/family planning

Question 1

What is the most common cause of ambiguous genitalia

Answer 1

Congenital adrenal hyperplasia

Question 2

How is CAH inherited

Answer 2

Autosomal dominant

Question 3

What is the cause of CAH

Answer 3

Due to 21 hydroxylase deficiency
- Obstructs cortisol production, no negative feedback to switch off ACTH

Dx: very high levels of 17-hydroxyprogesterone

Question 4

What is the sequence of puberty

Answer 4

Growth spurt
Thelarche (breast)
Pubarche (sexual hair)
Adrenarche (axillary hair, acne, body odor)
Menarche

Question 5

When do you work up infertility

Answer 5

Failure to achieve pregnancy in 12mo of unprotected intercourse in women <35 or within 6months in women >35

If >40 or condition with infertility immediate eval should be done

Question 6

What is the work up for female infertility

Answer 6

H&P
Labs:
- Diminished ovarian reserve
– AMH <1
– Day 2-5 FSH >10 and E2 >60-80
– Antral follicle count <5-7
- Ovulatory dysfunction
– oligomenorrhea or amenorrhea or luteal progesterone <3
- Tubal factor
– HSG, Hysterosalpingo-contrast sonography,
- Uterine factor
– TVUS, HSG, hysteroscopy, sonohysterogram