394 Obstetrics and Gynecology Board Review •••
❍ List several differential diagnosis of primary amenorrhea in a patient with absent breast development and an
absent uterus.
(1) Anatomic causes (imperforate hymen).
(2) Ovarian causes (primary ovarian failure).
(3) Hypothalamic/pituitary causes (exercised-induced, stress, drugs).
❍ What is the differential diagnosis of irregular menses and/or secondary amenorrhea in an adolescent?
(1) Pregnancy.
(2) Endocrine: Diabetes, PCOS, Cushing syndrome, thyroid disease, premature ovarian failure, and late onset
congenital adrenal hyperplasia.
(3) Tumors of the ovaries, adrenals, or a pituitary prolactinoma.
(4) Acquired disorders: Stress-related hypothalamic dysfunction, exercise-induced amenorrhea, and eating
disorder.
❍ What is the differential diagnosis of a patient presenting with vaginal agenesis?
(1) Müllerian agenesis.
(2) Congenital absence of vagina with present uterine structures.
(3) Androgen insensitivity.
(4) 17-hydroxylase deficiency.
(5) Low transverse vaginal septum.
(6) Imperforate hymen.
❍ Describe the characteristics of a patient with Müllerian agenesis.
(1) Normal breast development.
(2) Normal secondary sexual characteristics and body proportions.
(3) Presence of body hair.
(4) Present hymenal tissue.
(5) Normal ovarian hormonal and oocyte function.
(6) 46 XX karyotype.
❍ What tests are useful in differentiating Müllerian agenesis from androgen insensitivity in a
pubertal female?
(1) Serum testosterone is in the male range in androgen insensitivity.
(2) Ultrasound studies show ovarian tissue in Müllerian agenesis.
(3) The karyotype is 46 XY in androgen insensitivity.
❍ What is the role of MRI in the evaluation of Müllerian agenesis?
About 2% to 7% of patients with Müllerian agenesis have active endometrium present in the Müllerian structures.
MRI is useful in assessing the presence of functional endometrium if the ultrasound is equivocal in a patient
presenting with chronic or cyclical abdominal or pelvic pain.