Amenorrhea

Question 1

Primary amenorrhea in an adolescent with features of hyperandrogenism (acne, oily skin), features of insulin resistance (obesity, benign acanthosis nigricans), and normal pubertal changes of the breast and pubic hair is highly suggestive of….

Answer 1

PCOS

Question 2

Failure of menses by 15 yo if secondary sex characteristics are present or by 13 yo if secondary characteristics are not present

Answer 2

Primary Amenorrhea

Question 3

What are the major causes of primary amenorrhea?

Answer 3

constitutional growth delay, hypogonadotropic hypogonadism (kallman syndrome, prader-willi, athletes, anorexia, CNS tumors), hypergonadotropic hypogonadism (gonadal dysgenesis), anatomic anomalies (mullerian agenesis, imporforate hymen, vaginal atresia, transverse vaginal septum), and receptor/enzyme anomalies (AIS, 5-a-reductase def, CAH)

Question 4

Physical examination shows a broad chest, a low-set posterior hairline, and several pigmented nevi on her body. Ultrasonography of the abdomen and pelvis shows fusion of the kidneys at the lower poles, a small uterus, and fibrous ovaries. What is this presentation highly suggestive of?

Answer 4

Turner syndrome

Question 5

What heart anomalies are associated with turner syndrome?

Answer 5

Most commonly bicuspid aortic valve and coarctation of the aorta.

Question 6

17 yo presenting with no menarche, normal tanner stages, and a blind vaginal pouch is highly suggestive of…

Answer 6

Mullerian duct agenesis, a rare congenital defect in which the Mullerian ducts fail to fuse. As a result, the uterus, cervix, and upper third of the vagina are atretic. Patients are asymptomatic until puberty when they present with primary amenorrhea. The secondary sexual characteristics are usually normal since the gonads are functional and the patient has a normal female karyotype. The treatment is primarily surgical, involving uterine transplantation and vaginoplasty.