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Premature ovarian insufficiency — DFSRH MCQ

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HardDifferential DiagnosisPremature ovarian insufficiencyDFSRH

A 38-year-old woman attends a specialist sexual and reproductive health service with an 8-month history of hot flushes, night sweats, vaginal dryness and reduced libido. Before contraception she had regular menstrual cycles. An etonogestrel implant was inserted 2 years ago; after initially irregular bleeding, she became amenorrhoeic 14 months ago. The implant remains correctly sited and in date. She has had no major weight change, dietary restriction or intensive exercise. She has no headaches, visual disturbance, galactorrhoea, acne or hirsutism. She has not received chemotherapy, pelvic radiotherapy or ovarian surgery. Pregnancy testing is negative, and thyroid-stimulating hormone and prolactin are normal. While the implant remains in situ, serum follicle-stimulating hormone is 42 IU/L with estradiol 61 pmol/L. Repeat testing 6 weeks later shows follicle-stimulating hormone 47 IU/L with estradiol 54 pmol/L. She is not using combined hormonal contraception or hormone replacement therapy. Which diagnosis best accounts for the overall clinical and biochemical picture?

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Correct answer: C — Premature ovarian insufficiency

The diagnosis is premature ovarian insufficiency. Amenorrhoea alone is not discriminatory because the etonogestrel implant commonly alters bleeding and may mask the menstrual manifestations of declining ovarian function. The decisive features are her age below 40 years, new vasomotor and genitourinary symptoms, low estradiol and follicle-stimulating hormone concentrations above 30 IU/L on two samples taken 6 weeks apart. NICE requires compatible symptoms and persistently elevated follicle-stimulating hormone on two samples 4–6 weeks apart; FSRH notes that follicle-stimulating hormone measured during progestogen-only contraception can indicate ovarian insufficiency. Functional hypothalamic amenorrhoea also produces hypo-oestrogenism, but follicle-stimulating hormone is usually low or inappropriately normal and the relevant energy-deficit history is absent. Implant-associated amenorrhoea explains the bleeding pattern but not persistent hypergonadotrophic hypo-oestrogenism or the new menopausal symptoms. Hyperprolactinaemic hypogonadism would require elevated prolactin and usually low or normal gonadotrophins. Polycystic ovary syndrome can cause oligomenorrhoea or amenorrhoea, but does not produce this repeated hypergonadotrophic pattern and there are no clinical features of androgen excess. Premature ovarian insufficiency does not establish permanent sterility, so ongoing contraception remains necessary if pregnancy is not desired.

Reference: Quality statement 2: Diagnosing premature ovarian insufficiency (Published 2017; source guideline NG23 updated 2024) — https://www.nice.org.uk/guidance/QS143/chapter/quality-statement-2-diagnosing-premature-ovarian-insufficiency FSRH Guideline: Contraception for Women Aged Over 40 Years (August 2017; amended May 2025) — https://www.fsrh.org/Common/Uploaded%20files/documents/fsrh-guideline-contraception-for-women-aged-over-40-years.pdf FSRH Guideline: Contraception for Women Aged Over 40 Years, section 6.1.2 (August 2017; amended May 2025) — https://www.fsrh.org/Common/Uploaded%20files/documents/fsrh-guideline-contraception-for-women-aged-over-40-years.pdf