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46, XY female--a case report
1Department of Medicine, Tan Tock Seng Hospital, 11 Jalan Tan Tock Seng, Singapore 308433.
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.
