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A novel mutation in steroidogenic factor ( SF 1/ NR 5A1) gene in a patient with 46 XY DSD without adrenal insufficiency
Author(s) -
Tuhan H.,
Anik A.,
Catli G.,
Onay H.,
Aykut A.,
Abaci A.,
Bober E.
Publication year - 2017
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/and.12589
Subject(s) - steroidogenic factor 1 , missense mutation , gonadal dysgenesis , adrenal insufficiency , sanger sequencing , androgen insensitivity syndrome , infertility , subfamily , hypospadias , genetics , mutation , androgen receptor , disorders of sex development , biology , adrenal crisis , endocrinology , medicine , gene , nuclear receptor , transcription factor , pregnancy , prostate cancer , cancer
Summary Steroidogenic factor‐1 ( SF ‐1), also known as nuclear receptor subfamily 5 group A member 1 ( NR 5A1), is a member of orphan receptor subfamily and located on chromosome 9 (9q33). In 46, XY individuals with mutation of SF ‐1 gene, adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus, infertility can occur from severe to mild. We report a case of a 20‐day‐old male who is admitted to our clinic due to ambiguous genitalia. In this report, we describe a novel heterozygous c.814A > C (p. T272P) NR 5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency. We describe a novel missense mutation c.814A > C (p. T272P) in NR 5A1 gene which had not previously been reported. Also this report highlights that the potential diagnostic utility of next‐generation sequencing is an effective strategy versus Sanger sequencing to identify genetic mosaicism in clinical practice.