PMID: 9544375Apr 17, 1998Paper

Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity

Archives of Gynecology and Obstetrics
S KomoriK Koyama

Abstract

Androgen insensitivity syndromes are due to defects in the androgen receptor gene. In this study, we analyzed the androgen receptor gene in four cases with complete androgen insensitivity syndrome. In patient 1, one substitutional mutation [arginine (codon CGC) to cysteine (codon TGC) at position 774] of exon F was identified. This position was located in the hormone binding domain and appeared to be one hot spot of mutations because the mutations at the same position in several unrelated cases were reported before. In patient 2, one substitutional mutation [tyrosine (codon TAT) to cysteine (codon TGT) at position 571] of exon B was identified. This position was located in the DNA binding domain. In patients 3 and 4 (siblings), one substitutional mutation [arginine (codon CGA) to glutamine (codon CAA) at position 752] of exon E was identified. Taken together, these abnormalities might be related to the pathogenesis of complete androgen insensitivity.

Citations

Jan 16, 1999·Baillière's Clinical Endocrinology and Metabolism·I A Hughes
Sep 24, 2015·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·H AlptekinM Yıldız
Nov 26, 2013·Behavioural Brain Research·Dwayne K HamsonNeil V Watson
Oct 17, 2007·Journal of Pediatric Endocrinology & Metabolism : JPEM·Y W A JeskeA M Cotterill
Apr 23, 2003·Journal of Pediatric Endocrinology & Metabolism : JPEM·Dóra ScheiberJános Sólyom
Jan 3, 2019·Annals of Pediatric Endocrinology & Metabolism·You Jung HeoSung Sub Park
Aug 3, 2021·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Junke XiaXiangdong Kong

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