The earlier described mutation (c.307C>T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype

被引：2

作者：

Simsek, Enver ^{[1
]}

Binay, Cigdem ^{[1
]}

Ceylaner, Serdar ^{[2
]}

机构：

[1] Eskisehir Osmangazi Univ, Sch Med, Dept Pediat Endocrinol, Eskisehir, Turkey

[2] Intergen Genet Res Ctr, Ankara, Turkey

来源：

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2012年 / 25卷 / 5-6期

关键词：

46; XY DSD; female phenotype; homozygous mutation; SRD5A2; REDUCTASE TYPE-2 GENE; STEROID; 5-ALPHA-REDUCTASE-2; DEFICIENCY; TURKISH FAMILY; MALE PSEUDOHERMAPHRODITISM; LARGE PEDIGREE; HYPOSPADIAS; DELETION; PATIENT;

D O I：

10.1515/jpem-2011-0497

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Deletions and mutations in the 5-alpha-reductase type 2 (SRD5A2) gene have been identified in 46,XY disorders of sexual differentiation (DSD). The clinical spectrum is heterogeneous, varying from a normal female external genital appearance to clitoromegaly and isolated micropenis or microphallus associated with hypospadias of various degrees. We describe a 46, XY DSD patient with a homozygous c.307C>T (p.R103X) mutation in the SRD5A2 gene. The case presented with a normal female external genital phenotype.

引用

页码：543 / 545

页数：3

共 5 条

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ITALIAN JOURNAL OF PEDIATRICS, 2022, 48 (01)
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[3] An Extremely Rare SRD5A2 Gene c.485A >C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam
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MOLECULAR GENETICS & GENOMIC MEDICINE, 2014, 2 (04): : 292 - 296
[5] A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability
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The earlier described mutation (c.307C&gt;T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype

The earlier described mutation (c.307C>T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype