Premature ovarian insufficiency — ABIM Board MCQ

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ModerateWomen's Health/Men's HealthPremature ovarian insufficiencyABIM Board

A 36-year-old woman presents with 8 months of secondary amenorrhea, hot flashes, and infertility. A pregnancy test is negative. Serum follicle-stimulating hormone levels are 46 mIU/mL and 51 mIU/mL when measured 5 weeks apart, and the estradiol level is 18 pg/mL. Thyroid-stimulating hormone and prolactin levels are normal. Which of the following is the most likely diagnosis?

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Correct answer: B — Premature ovarian insufficiency

The diagnosis is premature ovarian insufficiency: loss or marked impairment of ovarian function before age 40. The decisive pattern is prolonged amenorrhea with hypoestrogenic symptoms, low estradiol, and elevated FSH, indicating hypergonadotropic hypogonadism. The two clearly elevated measurements strengthen confirmation. Polycystic ovary syndrome causes anovulation but usually has androgen excess and does not produce this low-estradiol, high-FSH pattern. Hypothalamic amenorrhea causes low or inappropriately normal FSH. Asherman syndrome causes an anatomic outflow or endometrial problem with an otherwise intact hormonal axis, often after uterine instrumentation. A prolactinoma would generally cause hyperprolactinemia, which is absent here.

Reference: Panay N, et al; ESHRE, ASRM, CREWHIRL, and IMS Guideline Group on POI. Evidence-based guideline: premature ovarian insufficiency. Hum Reprod Open. 2024. https://www.nichd.nih.gov/health/topics/poi/conditioninfo/diagnosed