Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency | Zendy

Erdal Eren | Zendy; Tuba Edgünlü | Zendy; Emre Asut | Zendy; Sevim Çelik | Zendy

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Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency

Author(s) -

Erdal Eren,

Tuba Edgünlü,

Emre Asut,

Sevim Çelik

Publication year - 2016

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.2495

Subject(s) - testis determining factor , exon , genetics , disorders of sex development , medicine , mutation , gene mutation , polymerase chain reaction , amenorrhea , primary amenorrhea , endocrinology , gene , biology , y chromosome , pregnancy

Deficiency of steroid 5-alpha reductase type 2 (5αRD2) is a rare autosomal recessive disorder caused by mutations in the SRD5A2 gene. A defect in the 5-alpha reductase enzyme, which ensures conversion of testosterone into dihydrotestosterone, leads to disorders of sex development. This study presents the clinical and genetic results of patients with 5αRD2 deficiency.

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