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Phenotypic and molecular characteristics of androgen insensitivity syndrome patients

Asian Journal of Andrology 2018年第5期20卷 473-478页

作者： Shi-Min Yuan Ya-Nan Zhang Juan Du Wen Li Chao-Feng Tu Lan-Lan Meng Ge Lin Guang-Xiu Lu Yue-Qiu Tan Reproductive and Genetic Hospital of Citic-Xiangya Changsha 410078 China Maternal and Child Health Hospital of Hunan Province Changsha 410078 China Institute of Reproduction and Stem Cell Engineering Central South University Changsha 410078 China

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[***4R], 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.

关键词： androgen insensitivity syndrome androgen receptor disorder of sex development mutation

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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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Yolk Sac Tumor in an infant with androgen insensitivity syndrome:a case report and review of the literature

Yolk Sac Tumor in an infant with Androgen Insensitivity Synd...

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2020年浙江省医学会小儿外科学术大会暨浙江省医师协会小儿外科医师学术大会暨浙江省抗癌协会小儿肿瘤专业委员会学术大会

作者：冯召广杨华军楼毅王爱和刘伟光杭州市儿童医院小儿外科

androgen insensitivity syndrome(AIS) is the most common cause of male pseudohermaphroditism and the third most common cause of primary *** present report describes a 8-month-oldchild with a female phenotype and a 46,XY karyotype,presenting with bilateral inguinal *** ultrasonography(US) found a solid mass suspected to be a testicular tumor of the right hernia sac and a testis of the left hernia sac,*** tomography showed a solid inguinal mass measuring 3.6 x 2.4 cm in the right and 1.6 x 1.1 cm in the left side,with homogeneous *** alpha-fetoprotein(AFP) was 2449 ng/mL,while β-human chorionic gonadotrophin(HCG) was ***,bilateral inguinal herniawas the primary *** patient underwent right radical inguinal orchiectomy with high ligation of the spermatic cord and laparoscopic percutaneous extra-peritoneal *** pathology confirmed a pure yolk sac tumor(YST) from the right *** follow-up ultrasonography shown no recurrence,with serum AFP returned to normal within 3 *** case we presented is very rarely reported in the literature with yolk sac tumor in a AIS children presented with a palpable lump inguinal region.

关键词： androgen insensitivity syndrome disorder of sex development(DSD) laparoscopic bilateral inguinal hernia yolk sac tumor

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