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
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
收藏
页码:518 / 519
页数:2
相关论文
共 22 条
  • [11] 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
  • [12] 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
  • [13] 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
  • [14] 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
  • [15] Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report
    Laureano, Daniela P.
    Kirjner, Vitoria
    Ferraro, Lethicia C.
    Carvalho, Clarissa G.
    Leite, Julio Cesar L.
    Hemesath, Tatiana P.
    Costa, Eduardo Correa
    Guaragna-Filho, Guilherme
    Leistner, Sandra
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2024, 37 (12) : 1091 - 1095
  • [16] Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study
    Rafigh, Mahboobeh
    Salmaninejad, Arash
    Khorashad, Behzad Sorouri
    Arabi, Azadeh
    Milanizadeh, Saman
    Hiradfar, Mehran
    Abbaszadegan, Mohammad Reza
    FETAL AND PEDIATRIC PATHOLOGY, 2022, 41 (01) : 141 - 148
  • [17] Molecular Analysis of the SRD5A2 in 46,XY Subjects With Incomplete Virilization: The P212R Substitution of the Steroid 5α-Reductase 2 May Constitute an Ancestral Founder Mutation in Mexican Patients
    Vilchis, Felipe
    Ramos, Luis
    Pablo Mendez, Juan
    Benavides, Socorro
    Canto, Patricia
    Chavez, Bertha
    JOURNAL OF ANDROLOGY, 2010, 31 (04): : 358 - 364
  • [18] Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias
    Yuan, Shimin
    Meng, Lanlan
    Zhang, Yanan
    Tu, Chaofeng
    Du, Juan
    Li, Wen
    Liang, Ping
    Lu, Guangxiu
    Tan, Yue-Qiu
    STEROIDS, 2017, 125 : 61 - 66
  • [19] Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development
    de Calais, Flavia Leme
    Soardi, Fernanda Caroline
    Petroli, Reginaldo Jose
    Gori Lusa, Ana Leticia
    de Paiva e Silva, Roberto Benedito
    Maciel-Guerra, Andrea Trevas
    Guerra-Junior, Gil
    de Mello, Maricilda Palandi
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2011, 12 (12): : 9471 - 9480
  • [20] A Novel Homozygous Mutation in CYP11A1 Gene Is Associated with Late-Onset Adrenal Insufficiency and Hypospadias in a 46, XY Patient
    Rubtsov, Petr
    Karmanov, Maksim
    Sverdlova, Polina
    Spirin, Pavel
    Tiulpakov, Anatoly
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (03) : 936 - 939