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46, XY female--a case report.

M K Leow1, K C Loh

  • 1Department of Medicine, Tan Tock Seng Hospital, 11 Jalan Tan Tock Seng, Singapore 308433.

Annals of the Academy of Medicine, Singapore
|March 13, 2001
PubMed
Summary

This case study highlights a woman with complete androgen insensitivity syndrome (CAIS) and a 46,XY karyotype. Long-term estrogen therapy improved her bone density and secondary sexual characteristics.

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Presents a presumptive case of complete androgen insensitivity syndrome (CAIS) with unique clinical manifestations.
  • CAIS is a condition where individuals with a 46,XY karyotype are externally female due to an inability to respond to androgens.

Observation:

  • A woman with primary amenorrhea and a history of intraabdominal gonads presented with early-onset osteoporosis.
  • Endocrinological evaluation revealed hypergonadotropic hypogonadism and a 46,XY karyotype.
  • The patient had defaulted on follow-up and hormone replacement therapy.

Findings:

  • Reinforcement of the female phenotype and estrogen replacement therapy led to gradual development of secondary sexual characteristics.
  • Significant improvement in bone mineral density was observed following treatment.

Implications:

  • Emphasizes the critical need for comprehensive patient counseling and education tailored to psychosexual and sociocultural factors in CAIS management.
  • Highlights the indispensable role of long-term estrogen replacement therapy in young post-gonadectomy patients with CAIS for maintaining physical health and bone density.

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