Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.

Ittiwut, Chupong; Pratuangdejkul, Jaturong; Supornsilchai, Vichit; Muensri, Sasipa; Hiranras, Yodporn; Sahakitrungruang, Taninee; Watcharasindhu, Suttipong; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

Ittiwut, Chupong; Pratuangdejkul, Jaturong; Supornsilchai, Vichit; Muensri, Sasipa; Hiranras, Yodporn; Sahakitrungruang, Taninee; Watcharasindhu, Suttipong; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk.

J Pediatr Endocrinol Metab ; 30(1): 19-26, 2017 Jan 01.

Article in En | MEDLINE | ID: mdl-27849622

Subject(s)

3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics; Disorder of Sex Development, 46,XY/genetics; Disorder of Sex Development, 46,XY/pathology; Membrane Proteins/genetics; Mutation/genetics; Receptors, Androgen/genetics; Amino Acid Sequence; Androgens/metabolism; Biomarkers/metabolism; Child; Child, Preschool; Cross-Sectional Studies; Dihydrotestosterone/metabolism; Disorder of Sex Development, 46,XY/metabolism; Female; Follow-Up Studies; Humans; Infant; Male; Prognosis; Protein Conformation; Receptors, Androgen/chemistry; Sequence Homology, Amino Acid; Testosterone/metabolism; Thailand

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Receptors, Androgen / Disorder of Sex Development, 46,XY / Membrane Proteins / Mutation Type of study: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: J Pediatr Endocrinol Metab Year: 2017 Document type: Article

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