46, XY female--a case report.
BACKGROUND
We examine a presumptive case of complete androgen insensitivity syndrome (CAIS) with certain unusual features.


METHODS
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.


METHODS
Therapy included reinforcement of the female phenotype and oestrogen replacement.


RESULTS
There was gradual development of her secondary sexual characteristics and improvement in her bone mineral density.


CONCLUSIONS
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.
Department of Medicine, Tan Tock Seng Hospital, 11 Jalan Tan Tock Seng, Singapore 308433.
M K
MK
Leow
K C
KC
Loh
D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000188:drug therapy* / Q000235:genetics*; D015519:Bone Density; D003937:Diagnosis, Differential; D004966:Estrogens, Conjugated (USP) / Q000008:administration & dosage*; D005260:Female; D005500:Follow-Up Studies; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis* / Q000188:drug therapy*; D006801:Humans; D008297:Male; D010641:Phenotype; D016896:Treatment Outcome
D004966:Estrogens, Conjugated (USP)