Premature Ovarian Failure – Top USMLE Diseases

Primary ovarian insufficiency (POI) is a condition resulting from the depletion or dysfunction of the ovarian follicles, leading to cessation of ovulation and menses before age 40. Primary ovarian insufficiency is primarily idiopathic, but it can also be seen in association with chromosomal and genetic defects, including Turner syndrome (45,X karyotype) and FMR1 premutation. Patients present with signs and symptoms of menopause prior to age 40, including oligomenorrhea or amenorrhea, vaginal dryness (often leading to dyspareunia), and infertility. Key laboratory findings include elevated follicle-stimulating hormone (FSH) and low estrogen levels. Once the diagnosis of POI is made, the patient should be screened for autoimmune adrenal antibodies, and a karyotype, FMR1 premutation screen, and baseline DEXA scan should be obtained. Management includes hormone replacement therapy (HRT), addressing fertility concerns as desired, and psychological support.

Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder of reproductive-age women, affecting nearly 5%‒10% of women in the age group. Characterized by hyperandrogenism, chronic anovulation leading to oligomenorrhea (or amenorrhea), and metabolic dysfunction, PCOS increases a woman’s risk for infertility, endometrial hyperplasia or carcinoma, and cardiovascular disease. The pathophysiology is incompletely understood but thought to have a multifactorial genetic basis causing altered pulsatile release of gonadotropin-releasing hormone (GnRH), as well as increases in luteinizing hormone (LH), androgens, estrogen, and insulin: The result is chronic anovulation and hirsutism, which define the condition. Diagnosis is one of exclusion; therefore, other causes of abnormal uterine bleeding and hirsutism must be ruled out. Management includes attempting to restore normal ovulation through weight loss, oral contraceptive pills (OCPs), and fertility assistance.