Master the board step 3

Gynecology
A 17-year-old girl is brought to the clinic by her mother concerned because her
daughter has never had a menstrual period. She reports that her daughter has
good grades, studies hard but seems stressed out most of the time which is why
she believed her period was delayed. On examination she seems to be well-nourished,
with adult breast development and pubic hair present. Pelvic examination
reveals a foreshortened vagina. No uterus is seen on ultrasound. What is the most
appropriate advice?
a. CT scan of the brain is indicated to evaluate a pituitary tumor.
b. Estrogen and progesterone supplementation is indicated.
c. In vitro fertilization is an option for future fertility.
d. Surgical removal of intra-abdominal testes is recommended.
e. Vaginal reconstruction may be performed.
Answer: E. This patient has Müllerian agenesis resulting in an absence of uterus,
cervix and upper vagina. Ovaries are intact and normal levels of estrogen are present.
Vaginal reconstruction may be performed to elongate the vagina for satisfactory sexual
intercourse.
Müllerian Agenesis
This is the diagnosis when karyotype reveals normal female secondary
sexual characteristics and normal estrogen and testosterone levels (ovaries
are intact). The only abnormality is absence of all Müllerian duct derivatives
(fallopian tubes, uterus, cervix, and upper vagina).
Management involves the surgical elongation of the vagina for satisfactory
sexual intercourse and counseling about infertility.
Androgen Insensitivity
This is the diagnosis when there is no pubic or axillary hair, a karyotype reveals
male genotype, and ultrasound reveals testes. The testes produce both normal
levels of estrogen for a female and normal levels of testosterone for a male.
Management involves the removal of testes before age 20 because of increased
risk of testicular cancer. Estrogen replacement will then be needed.
Gonadal Dysgenesis (Turner Syndrome, XO)
This is the diagnosis when karyotyping reveals absence of one X chromosome
(45, X), absence of secondary sexual characteristics, and elevated FSH.
Because the second X chromosome is essential to the development of normal
ovarian follicles, streak gonads develop.
Management involves estrogen and progesterone replacement for development
of secondary sexual characteristics.
475