Primary Amenorrhea

Question 1

What is the definition of primary amenorrhea?

Answer 1

• No menarche by 15 yo WITH secondary sexual characteristics
• No menarche by 13 yo WITHOUT secondary characteristics
• No menarche 5 years after breast development (if occurs before 10 yo)

Question 2

What is the definition of secondary amenorrhea?

Answer 2

Amenorrhea that occurs after menarche. Either 3 months without menses or <9 cycles/year.

Question 3

What are some characteristics that distinguish Mullerian Agenesis and Androgen Insensitivity syndrome?

Answer 3

1. Karyotype
   - Mullerian Agenesis 46 XX
   - AIS 46 XY
2. Axillary/pubic hair
   - None or minimal in AIS
3. Testosterone level
   - Male level in AIS
4. Type of gonad
   - Ovary in Mullerian Agenesis
   - Testes in AIS

Question 4

What is the treatment for the most common obstructive lesion of the female genital tract?

Answer 4

The treatment for imperforate hymen is excision by making a cruciate or U-shaped incision (to avoid the urethra) and removal of redundant hymenal mucosa. Remaining mucosal edges are re-approximated using 3-0 or 4-0 absorbable suture. You should not perform a simple incision and drainage of an imperforate hymen with hematocolpos as this increases the risk of ascending infection and sepsis!

Question 5

What is the most common genetic etiology of pubertal delay and primary amenorrhea?

Answer 5

Turner Syndrome. In a large case series, it accounted for 20% of cases of primary amenorrhea.

Question 6

A 19-year-old woman with primary amenorrhea and lack of breast development visits your clinic. She is 1.73 m (68 in) tall and weighs 63.5 kg (140 lb). On physical examination, she has Tanner stage 1 breast development and Tanner stage 1 pubic hair. Genital examination reveals a cervix. Her follicle-stimulating hormone and luteinizing hormone levels are 76 mIU/mL and 64 mIU/mL, respectively. Her estradiol level is less than 20 pg/mL. The most likely diagnosis is (REI prologue #103):
A. Androgen insensitivity syndrome
B. Kallmann syndrome
C. Turner syndrome
D. Swyer syndrome

Answer 6

D. This is an example of hypergonadotropic hypogonadism (High FSH and LH, low estradiol). This patient is tall, has no secondary sexual characteristics and has developed Mullerian structures (cervix present, can assume presence of uterus, fallopian tube and vagina as well). The diagnosis is gonadal agenesis, 46 XY or Swyer syndrome.

Question 7

A 17-year-old adolescent comes to your office with primary amenorrhea. She has Tanner stage 4 breast development and a blind-ending vagina with no palpable uterus. Her pubic hair is Tanner stage 1 and she has no axillary hair. The most likely diagnosis is (REI prologue #48)

(A) androgen insensitivity syndrome
(B) Müllerian dysgenesis
(C) Perrault syndrome
(D) Swyer syndrome

Answer 7

A. Tall, presence of breast development but NOT adrenarche (pubic hair), no Mullerian structures = Androgen insensitivity syndrome.
Swyer and Perrault syndrome (46 XX) are due to gonadal dysgenesis - they don’t undergo puberty and breast development and would have uterus

Question 8

A 19-year-old nulligravid woman comes to your office with primary amenorrhea. She is 1.75 m (69 in.) tall with Tanner stage 1 breast development and Tanner stage 3 pubic hair. Her follicle-stimulating hormone level is 52 mIU/mL. Her endocrine screening is otherwise normal. Her karyotype is 46,XY. In addition to psychologic counseling, the next step in management should be (REI prologue #86)

(A) gonadectomy
(B) Y-sequence analysis identification
(C) combination oral contraceptives
(D) growth hormone therapy
(E) observation

Answer 8

A. This patient has 46 XY gonadal dysgenesis or Swyer syndrome. She is tall with no breast development and delayed adrenarche. High FSH. She should undergo gonadectomy as there is a 30% risk of malignant transformation if the non-functioning testes are left in place. Gonadoblastoma is the most common malignancy, followed by dysgerminoma.