ABSTRACT
'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 overemphasised as illustrated in our case.The phenotypic sex of an individual is usually male if that person’s genotype is 46, XY since the SRY gene on the Y chromosome, being the putative testicular determining factor (TDF) governs testicular gonadogenesis. Yet, there are distinct situations where sexual differentiation proceeds along a female phenotype despite the presence of the Y chromosome.
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