46, XY female--a case report.

INTRODUCTION We examine a presumptive case of complete androgen insensitivity syndrome (CAIS) with certain unusual features. CLINICAL PICTURE A woman with early onset osteoporosis gave a history of primary amenorrhoea and surgery for intraabdominal gonads. She subsequently defaulted follow-up and hormone replacement therapy. Endocrinological evaluation revealed hypergonadotrophic hypogonadism associated with a 46,XY karyotype. TREATMENT Therapy included reinforcement of the female phenotype and oestrogen replacement. OUTCOME There was gradual development of her secondary sexual characteristics and improvement in her bone mineral density. CONCLUSION Patients with CAIS need proper counselling and education according to their psychosexual make-up and sociocultural factors. The importance of long-term oestrogen replacement in a young subject post-gonadectomy cannot be overemphasized as illustrated in our case.