A 22-year-old woman presents with primary amenorrhea, short stature (150 cm), webbed neck, widely spaced nipples, and normal female external genitalia. Karyotype is 45,X. Ovarian biopsy shows fibrous streak gonads. What is the endocrine profile and preferred hormone replacement approach?
- A High FSH/LH, low oestradiol — exogenous oestrogen started low-dose with annual up-titration to mimic puberty ✓
- B Low FSH/LH, low oestradiol — GnRH pump therapy to stimulate puberty
- C Normal FSH/LH, low oestradiol — combined oral contraceptive pill for HRT
- D High FSH/LH, high oestradiol — investigation for oestrogen-secreting tumor
Correct answer: A. High FSH/LH, low oestradiol — exogenous oestrogen started low-dose with annual up-titration to mimic puberty
Explanation
Turner syndrome (45,X) causes primary gonadal failure: streak gonads produce no oestrogen, resulting in hypergonadotropic hypogonadism (high FSH and LH with very low oestradiol). HRT should begin around age 12–13 years with low-dose oestrogen (17β-oestradiol transdermal 0.25 mg, escalating over 2–3 years) to mimic the gradual oestrogen rise of normal puberty, optimise uterine growth, breast development, and bone mineralisation. Progesterone is added once breakthrough bleeding occurs or after 2 years of oestrogen.
Reference: Shaw's Textbook of Gynaecology, 17th ed.
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Written and medically reviewed by the StethoPrep medical team.