Amenorrhea (Primary)

Question 0

Most common causes of primary amenorrhea if normal breast development?

Answer 0

Mullerian agenesis and androgen insensitivity

Question 1

Definition of primary amenorrhea?

Answer 1

No menses by age 16

Question 2

Patient with primary amenorrhea and born with only one kidney – likely diagnosis?

Answer 2

Mullerian agenesis (significant fraction of these patients will have urinary tract abnormality)

Question 3

Patient with primary amenorrhea and scant hair?

Answer 3

CAH

Question 4

Patient with primary amenorrhea and absence of breast development?

Answer 4

Gonadal dysgenesis (turner syndrome)

Question 5

46 XX female with congenital absence of uterus, cervix, and fallopian tubes? Do have what anatomical parts?

Answer 5

Mullerian agenesis; Ovaries (ovaries are not Mullerian structures)

Question 6

Three most common causes of primary amenorrhea?

Answer 6

Pregnancy, androgen insensitivity, Mullerian agenesis

Question 7

Differences: Mullerian agenesis versus androgen insensitivity? (3)

Answer 7

1. Normal hair versus absent hair
2. Normal testosterone versus high testosterone
3. XX versus XY

Question 8

Complications of CAH? Prophylaxis? (When? Why then?)

Answer 8

Malignancy of intra-abdominal gonads

Gonadectomy after puberty (to allow for breast development and when you grow)

Question 9

20-year-old patient with primary amenorrhea and Tanner stage one breast development – likely diagnosis? Complication?

Answer 9

Gonadal dysgenesis; gonadal malignancy

Question 10

Teenage patient with absence of breast development and short stature – karyotype reveals 46 XX – diagnosis?

Answer 10

Gondal dysgenesis (can also happen in XY pt)

Question 11

Kallmann syndrome?

Answer 11

1. Lack of smell

2. Hypogonadotrophic hypogonadism (deficiency of GnRH)