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Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene:A case report

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World Journal of Clinical Cases 2021年第35期9卷 11036-11042页

作者： Ka-Na Wang Qing-Qing Chen Yi-Lin Zhu Chun-Lin Wang Department of Pediatrics The First Affiliated Hospital of Zhejiang University School of MedicineHangzhou 310000Zhejiang ProvinceChina

BACKGROUND Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene(AR).However,the underlying molecular mechanisms for the majority of AR variants remain *** this study,we identified a point variant in three patients with complete androgen insensitivity syndrome(CAIS),summarized the correlation analysis,and performed a literature *** SUMMARY The proband was raised as a *** infancy,she was first referred to hospital with a right inguinal *** revealed the absence of a uterus and ovaries,and a testis-like structure located at the inguinal *** diagnostic workup detected a 46,xy karyotype,and fluorescence in situ hybridization analysis showed the presence of the SRY *** analysis revealed the excised tissue to be *** years later,she was admitted to our hospital with a lack of breast *** pubic hair and breasts were Tanner stage *** had normal female external *** hormone tests showed normal testosterone levels,low estradiol levels,and high gonadotropin *** two siblings underwent similar examinations,and all three had a rare hemizygous missense mutation in AR:c.2678C>*** vitro functional analyses revealed decreased nuclear translocation in AR-c.2678C>T mutation *** This case of CAIS was caused by an AR variant(c.2678C>T).Functional studies showed impaired nuclear translocation ability of the mutant protein.

关键词： Androgen insensitivity syndrome 46 xy disorders of sex development Variants Androgen receptor gene Ligand-binding domain Case report

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