Disorders of sexual differentiation

Question 1

Primary amenorrhea definition?

Answer 1

The failure of menses to occur by age 15 years, in the presence of normal growth and secondary sexual characteristics

Question 2

If there is a complete absence of secondary sexual characteristics such as breast development, evaluation for primary amenorrhea should also begin at what age?

Answer 2

13

Question 3

DD Primary Amenorrhea?

Answer 3

●Gonadal dysgenesis, including Turner syndrome
●Müllerian agenesis
●Physiological delay of puberty
●PCOS
●Transverse vaginal septum
●Weight loss/anorexia nervosa – 2 percent
●Hypopituitarism – 2 percent

Question 4

1st steps in work up of Primary Amenorrhea?

Answer 4

1- H&P with emphasis on presence of a) breasts and b) uterus (tanner stages)
2- Pregnancy test
3- FSH

Question 5

Likely diagnosis if FSH high?

Answer 5

Gonadal dysgenesis

Question 6

Likely diagnosis if FSH normal and no uterus?

Answer 6

MRKH or Complete Androgen insensitivity

Question 7

If FSH is normal, breast development is present, and the ultrasound shows hematometra or hematocolpos?

Answer 7

Outflow tract obstruction (eg, Imperforate hymen or MRKH with uterine development)

Question 8

Inheritance Androgen Insensitivity?

Answer 8

X-linked

Question 9

Inheritance 5 alpha reductase deficiency?

Answer 9

Recessive