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Article

AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.

Andrology - 1 Jul 2014

Akcay T, Fernandez-Cancio M, Turan S, Güran T, Audi L, Bereket A

Abstract excerpt

46,XY disorders of sex development (DSD) are caused by disorders of gonadal development, androgen biosynthesis and receptor (AR) defects. Although, clinical/biochemical features help in distinguishing specific aetiologies, there are overlaps which necessitate molecular analyses for the definitive diagnosis. To test precision of our clinical diagnosis of androgen insensitivity (AIS) by analysing AR and then SRD5A2...

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Identifiers

PMID: 24737579
DOI: 10.1111/j.2047-2927.2014.00215.x

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AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.PMID 24737579Read ↗

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