Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development

被引：4

作者：

Li, Shu-Ping ^{[1
]}

Li, Li-Wei ^{[1
]}

Sun, Ming-Xia ^{[1
]}

Chen, Xin-Xin ^{[2
]}

Wang, Xiu-Feng ^{[3
]}

Li, Zeng-Kui ^{[4
]}

Zhou, Sheng-Yun ^{[4
]}

Zhai, Dong-Cai ^{[4
]}

Geng, Shu-Xia ^{[3
]}

Li, Shu-Jun ^{[1
]}

Dou, Xiao-Wei ^{[5
]}

机构：

[1] Xingtai Peoples Hosp, Clin Lab 2, Xingtai 054000, Peoples R China

[2] Xingtai Peoples Hosp, Nutr Dept, Xingtai 054000, Peoples R China

[3] Xingtai Peoples Hosp, Dept Paediat, Xingtai 054000, Peoples R China

[4] Xingtai Peoples Hosp, Funct Examinat Dept, Xingtai 054000, Peoples R China

[5] Guizhou Med Univ, Clin Res Ctr, Affiliated Hosp, Guiyang 550004, Guizhou, Peoples R China

来源：

ASIAN JOURNAL OF ANDROLOGY | 2018年 / 20卷 / 05期

关键词：

DEFICIENCY;

D O I：

10.4103/aja.aja_34_18

中图分类号：

R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

摘要：

引用

页码：518 / 519

页数：2

共 22 条

[1] A novel SRD5A2 mutation in an Iranian family with sex development disorder
Hashemi-Gorji, Feyzollah
Salehpour, Shadab
Miryounesi, Mohammad
Mirfakhraie, Reza
Yassaee, Vahid Reza
ANDROLOGIA, 2021, 53 (01)
[2] SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation
Fernandez-Cancio, M.
Audi, L.
Andaluz, P.
Toran, N.
Piro, C.
Albisu, M.
Gussinye, M.
Yeste, D.
Clemente, M.
Martinez-Mora, J.
Blanco, A.
Granada, M. L.
Marco, M.
Ferragut, J.
Lopez-Siguero, J. P.
Beneyto, M.
Carles, C.
Carrascosa, A.
INTERNATIONAL JOURNAL OF ANDROLOGY, 2011, 34 (06): : E526 - E535
[3] Molecular Diagnosis of 46,XY DSD and Identification of a Novel 8 Nucleotide Deletion in Exon 1 of the SRD5A2 Gene
Nagaraja, M. R.
Rastogi, Amit
Raman, Rajiva
Gupta, Dinesh K.
Singh, S. K.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2010, 23 (04) : 379 - 385
[4] 46 XY disorder of sex development (DSD) due to 5 alpha (SRD5A2) deficiency - Experience from a multidisciplinary Pediatric Gender Clinic
Bose, Sumona
Das, Kanishka
George, Belinda
Raman, Vijaya
Shubha, A. M.
Mahadevappa, Kiran
Kumar, Prasanna
Bantwal, Ganapathi
Ayyar, Vageesh
Deb, Mainak
JOURNAL OF PEDIATRIC UROLOGY, 2022, 18 (04) : 492.e1 - 492.e8
[5] Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia
Vilchis, Felipe
Valdez, Evangelina
Ramos, Luis
Garcia, Rocio
Gomez, Rita
Chavez, Bertha
JOURNAL OF HUMAN GENETICS, 2008, 53 (05) : 401 - 406
[6] 46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene
Ellaithi, Mona
Werner, Ralf
Riepe, Felix G.
Krone, Nils
Kulle, Alexandra E.
Diab, Tayseer
Kamel, Alaa K.
Arlt, Wiebke
Holterhus, Paul-Martin
Sabir, Omyma
Hiort, Olaf
SEXUAL DEVELOPMENT, 2014, 8 (04) : 151 - 155
[7] Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 Deficiency
Kumar, Anil
Sharma, Rajni
Faruq, Mohammed
Suroliya, Varun
Kumar, Manoj
Sharma, Shilpa
Werner, Ralf
Hiort, Olaf
Jain, Vandana
SEXUAL DEVELOPMENT, 2020, 13 (5-6) : 228 - 239
[8] A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia
Tsai, Meng-Che
Chou, Yen-Yin
Lin, Shio-Jean
Tsai, Li-Ping
KAOHSIUNG JOURNAL OF MEDICAL SCIENCES, 2012, 28 (04) : 231 - 235
[9] AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity
Akcay, T.
Fernandez-Cancio, M.
Turan, S.
Gueran, T.
Audi, L.
Bereket, A.
ANDROLOGY, 2014, 2 (04) : 572 - 578
[10] A Novel SRD5A2 Mutation with Loss of Function Identified in Chinese Patients with Hypospadias
Zhang, Manna
Yang, Jun
Zhang, Huijie
Ning, Guang
Li, Xiaoying
Sun, Shouyue
HORMONE RESEARCH IN PAEDIATRICS, 2011, 76 (01): : 44 - 49

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