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Volume 20, Issue 5 (September 2018) 20, 473–478; 10.4103/aja.aja_17_18

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients

Shi-Min Yuan1, Ya-Nan Zhang2, Juan Du1,3, Wen Li1,3, Chao-Feng Tu3, Lan-Lan Meng1, Ge Lin1,3, Guang-Xiu Lu1,3, Yue-Qiu Tan1,3

1 Reproductive and Genetic Hospital of Citic-Xiangya, Changsha 410078, China
2 Maternal and Child Health Hospital of Hunan Province, Changsha 410078, China
3 Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha 410078, China

Correspondence: Dr. YQ Tan (tanyueqiu@csu.edu.cn)

Date of Submission 29-Aug-2017 Date of Acceptance 25-Jan-2018 Date of Web Publication 18-May-2018


Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype–phenotype correlations. Ten patients from unrelated families, aged 2–31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel (c.2112 C>G[p.S704R], c.2290T>A[p.Y764N], c.2626C>T[p.Q876X], c.933dupC[p.K313Qfs*28], and c.1067delC[p.A356Efs*123]); the other five were previously reported (c.1789G>A[p.A597T], c.2566C>T[p.R856C], c.2668G>A[p.V890M], c.2679C>T[p.P893L], and c.1605C>G[p.Y535X]). Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% (3/10) of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4–8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.

Keywords: androgen insensitivity syndrome;androgen receptor; disorder of sex development; mutation

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