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Title: Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development
Authors: Chupong Ittiwut
Jaturong Pratuangdejkul
Vichit Supornsilchai
Sasipa Muensri
Yodporn Hiranras
Taninee Sahakitrungruang
Suttipong Watcharasindhu
Kanya Suphapeetiporn
Vorasuk Shotelersuk
Chulalongkorn University
Mahidol University
King Chulalongkorn Memorial Hospital, Faculty of Medicine Chulalongkorn University
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Jan-2017
Citation: Journal of Pediatric Endocrinology and Metabolism. Vol.30, No.1 (2017), 19-26
Abstract: © 2017 2017 Walter de Gruyter GmbH, Berlin/Boston. Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial androgen insensitivity syndrome (PAIS): OMIM 312300] during the 8th-12th weeks of gestation cause varying degrees of undervirilized external genitalia in 46, XY disorders of sex development (DSD) with increased testosterone production. The objective of the study was to determine clinical and genetic characteristics of Thai patients with 46, XY DSD. A cross-sectional study was conducted in 46, XY DSD with increased testosterone production (n=43) evaluated by a human chorionic gonadotropin (hCG) stimulation test or clinical features consistent with 5α-reductase deficiency or PAIS. PCR sequencing of the entire coding regions of the SRD5A2 and AR genes was performed. Molecular modeling analysis of the androgen receptor-ligand-binding domain (AR-LBD) of a novel mutation was constructed. Mutations were found in seven patients (16.3%): five (11.6%) and two (4.7%) patients had mutations in SRD5A2 and AR, respectively. Two novel mutations, SRD5A2 c.383A>G (p.Y128C) and AR c.2176C>T (p.R726C), were identified. Dimensional structural analysis of the novel mutated AR (p.R726C) revealed that it affected the co-activator binding [binding function-3 (BF-3)], not the testosterone binding site. Short phallus length was associated with 5α-reductase deficiency. Around 16.3% of our patients with 46, XY DSD had 5α-reductase deficiency or PAIS. Two novel mutations of SRD5A2 and AR were identified. The novel mutated AR (p.R726C) might affect the co-activator binding (BF-3), not the testosterone binding site.
ISSN: 21910251
Appears in Collections:Scopus 2016-2017

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