A 16-year-old girl with primary amenorrhoea has normal secondary sexual characteristics, absent uterus on ultrasound, 46,XY karyotype, and markedly elevated LH with mildly elevated testosterone (within normal female range). The most appropriate management includes:

• A Testosterone supplementation to virilise the patient
• B Gonadectomy after puberty is complete due to risk of gonadal malignancy ✓
• C Uterine transplant and IVF
• D Immediate gonadectomy in childhood before puberty

Explanation

Complete androgen insensitivity syndrome (CAIS) presents with 46,XY karyotype, absent uterus and fallopian tubes (regression due to Mullerian inhibiting factor), normal female external phenotype, and elevated LH with normal to high testosterone. The gonads (undescended testes) carry an increased risk of gonadal germ cell tumours (seminoma/dysgerminoma), estimated at 2–3% by adulthood. Current consensus is to perform gonadectomy after puberty is complete (allowing natural feminisation) with subsequent oestrogen replacement. Early gonadectomy in childhood is no longer recommended due to loss of oestrogen for puberty.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.