A 17-year-old girl presents with primary amenorrhoea. She is tall with eunuchoid proportions, has absent breast development and scanty pubic hair, and ultrasound shows bilateral streak gonads with a normal uterus. Karyotype is 46,XY and FSH is markedly elevated. What is the essential next step in her management beyond hormone replacement?

• A Gonadal biopsy alone, reserving surgery for histological confirmation of neoplasia
• B Annual tumour marker surveillance with gonadectomy deferred until after puberty
• C Prophylactic bilateral gonadectomy because of gonadoblastoma and dysgerminoma risk ✓
• D Ovulation induction after oestrogen priming to achieve fertility

Explanation

In 46,XY complete gonadal dysgenesis, the intra-abdominal streak gonads carry a substantial lifetime risk of gonadoblastoma, which frequently transforms into dysgerminoma. Standard practice is therefore bilateral prophylactic gonadectomy once the karyotype confirms Y chromosomal material, followed by long-term oestrogen-progestin replacement. Deferring surgery or merely biopsying leaves the patient exposed to a preventable malignant event. These streak gonads contain no functional follicles, so fertility through them is impossible.

Reference: Jeffcoate's Principles of Gynaecology, 9th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.