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 50 条

[31] PUBERTAL VIRILIZATION IN AN ADOLESCENT WITH 46, XY DISORDER OF SEXUAL DEVELOPMENT: A NOVEL MUTATION IN NR5A1 GENE
Gunes, S.
Sevim, R. D.
Yigit, Z. M.
Culhaci, N.
Unuvar, T.
Anik, A.
ACTA ENDOCRINOLOGICA-BUCHAREST, 2023, 19 (03) : 364 - 369
[32] 46,XY female sex reversal patient with a novel point mutation in the coding sequence of the SRY gene
Zhou, Chang
Li, Lu-Yun
Fu, Jun-Jiang
Mo, Ya-Qin
Zhong, Chang-Gao
Lu, Guang-Xiu
Chinese Journal of Medical Genetics, 2003, 20 (05) : 369 - 372
[33] Longitudinal Hormonal Evaluation in a Patient With Disorder of Sexual Development, 46,XY Karyotype and One NR5A1 Mutation
Pedace, Lucia
Laino, Luigi
Preziosi, Nicoletta
Valentini, Maria Stella
Scommegna, Salvatore
Rapone, Anna Maria
Guarino, Nino
Boscherini, Brunetto
De Bernardo, Carmelilia
Marrocco, Giacinto
Majore, Silvia
Grammatico, Paola
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (11) : 2938 - 2946
[34] Molecular Characterization of Two Known SRD5A2 Gene Variants in Mexican Patients With Disorder of Sexual Development
Maria Guadalupe, Ortiz-Lopez
Katy, Sanchez-Pozos
Charmina, Aguirre-Alvarado
Vihko, Pirkko
Marta, Menjivar
FRONTIERS IN GENETICS, 2022, 12
[35] 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
[36] The earlier described mutation (c.307C>T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype
Simsek, Enver
Binay, Cigdem
Ceylaner, Serdar
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2012, 25 (5-6): : 543 - 545
[37] Aetiology of 46,XY DSD in Algeria; Putative Modifier Role of pV89L Polymorphism in the SRD5A2 Gene in Androgen Receptor Mutation-Negative Subjects
Ladjouze, Asmahane
Philibert, Pascal
Taleb, Ourida
Kedji, Lila
Maoudj, Abdeljalil
Berkouk, Karima
Bouhafs, Nadjet
Dahmane, Nabila
Melzi, Souhila
Anane, Tahar
Sultan, Charles
Laraba, Abdenour
HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 282 - 283
[38] Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene
Deeb, Asma
Al Suwaidi, Hana
Ibukunoluwa, Fakunle
Attia, Salima
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2016, 8 (02) : 236 - 240
[39] Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient
Parlak, Mesut
Durmaz, Erdem
Gursoy, Semin
Bircan, Iffet
Akcurin, Sema
ANNALS OF SAUDI MEDICINE, 2014, 34 (03) : 254 - 256
[40] Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency
Cheng, Tong
Wang, Hao
Han, Bing
Zhu, Hui
Yao, Hai-Jun
Zhao, Shuang-Xia
Zhu, Wen-Jiao
Zhai, Hua-Ling
Chen, Fu-Guo
Song, Huai-Dong
Cheng, Kai-Xiang
Liu, Yang
Qiao, Jie
ASIAN JOURNAL OF ANDROLOGY, 2019, 21 (06) : 577 - +

← 1 2 3 4 5 →