Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome

• Shao Jialiang

  Department of Urology, Huashan Hospital of Fudan University

• Hou Jiangang

  Department of Urology, Huashan Hospital of Fudan University

• Li Bingkun

  Department of Urology, Zhujiang Hospital of Southern Medical University

• Li Dongyang

  Department of Urology, Huashan Hospital of Fudan University

• Zhang Ning

  Department of Urology, Huashan Hospital of Fudan University

• Wang Xiang

  Department of Urology, Huashan Hospital of Fudan University

抄録

Mutations of androgen receptor (AR) are the most frequent cause of 46, XY disorders of sex development and associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome (CAIS)) to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). From 2009 to 2012, two young Chinese female individuals with CAIS from two families were referred to our hospital due to primary amenorrhea. Defects in testosterone (T) and dihydrotestosterone (DHT) synthesis were excluded. Physical examination revealed that the patients have normal female external genitalia, normal breast development, vellus hair in the axilla and on the arms and legs, but absence of pubic hair, and a blind-ending vagina. Two different types of AR mutations have been detected by sequencing of genomic DNA: Family A showed deletion of exon 2 in AR gene; Family B showed a single nucleotide C-to-T transition in exon 8 of AR gene resulting in a proline 893-to-leucine substitution (Pro893Leu). Testicular histology showed developmental immaturity of seminiferous tubules with the absence of spermatogenic cells or spermatozoa. No AR immunoreactivity was observed in either case. Three adult patients recovered well from bilateral orchiectomy. The juvenile patient of family B was followed up. Our present study on these two families revealed two different types of AR mutation. The definitive diagnosis of AIS was based on clinical examination and genetic investigations. Our findings verified the mechanism of CAIS and also enriched AR Gene Mutation Database.

収録刊行物

• Intractable & Rare Diseases Research

  Intractable & Rare Diseases Research 4 (1), 54-59, 2015

  特定非営利活動法人 バイオ＆ソーシャル・サイエンス推進国際研究交流会

キーワード

• Complete androgen insensitivity syndrome
• androgen receptor
• disorder of sex development
• AR domains
• deletion and transition

詳細情報

• CRID: 1390001205546606464
• NII論文ID: 130005008099
• DOI: 10.5582/irdr.2014.01035
• ISSN: 2186361X
• ISSN: 21863644
• Web Site: https://search.jamas.or.jp/link/ui/2016174942
• 本文言語コード: en
• データソース種別:
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