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Open Access 13-03-2025 | Disorder of Sex Development | Case report

Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature

Authors: Kangji Liao, Ying Wang, Xianlin Yi

Published in: Journal of Medical Case Reports | Issue 1/2025

Abstract

Background

Complete androgen insensitivity syndrome is caused by inactivated mutations in the androgen receptor gene, which results in complete androgen resistance and a female phenotype with a 46,XY karyotype. This condition is rare in twins.

Case presentation

We report on a Han Chinese twin girl, aged 18 years, with the presence of a vagina and breasts but no uterus and ovaries and chromosomal karyotype analysis showing 46, XY, who was diagnosed with complete androgen insensitivity syndrome. The patient underwent bilateral gonadectomy and hormone replacement therapy, and pathological diagnosis showed immature testicular tissue development.

Conclusion

In addition to rebuilding the external genitalia and preventing the emergence of gonadal tumors, continuing hormone replacement therapy after surgery is critical for the treatment of complete androgen insensitivity syndrome, and patients’ psychological difficulties should be addressed.

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Title: Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature
Authors: Kangji Liao
Ying Wang
Xianlin Yi
Publication date: 13-03-2025
Publisher: BioMed Central
Keywords: Disorder of Sex Development
Gonadal Disorders
Hormone Replacement Therapy
Androgens
Testosterone
Human Genetics
Endocrinology and Reproductive Medicine
Published in: Journal of Medical Case Reports / Issue 1/2025
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-025-05139-9

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Abstract

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