Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study. (7th February 2022)

• Record Type: Journal Article
• Authors: Rafigh, Mahboobeh; Salmaninejad, Arash; Sorouri Khorashad, Behzad; Arabi, Azadeh; Milanizadeh, Saman; Hiradfar, Mehran; Abbaszadegan, Mohammad reza
• Is Part Of: Fetal and pediatric pathology. Volume 41:Number 1(2022)
• Page Start: 141
• Page End: 148
• Publication Date: 2022-02-07
• Subjects: Steroid 5-a reductase -- mutation -- 46 XY disorders -- sex development; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2020.1745974
• Languages: English
• ISSNs: 1551-3815

Abstract

Abstract: Background: Steroid-5α-reductase-2 (SRD5A2) and 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) enzyme deficiencies are frequent causes of 46, XY disorder of sex development (46, XY DSD), where an infant with 46, XY has a female phenotype. We assessed the hydroxy-steroid-17β-dehydrogenase-3 (HSD17B3)and SRD5A2 genes in twenty Iranian phenotypic females with 46, XY DSD. Materials and methods: All exons in HSD17B3 and SRD5A2 genes were subjected to PCR amplification followed by sequencing. Results: Of 20 identified 46, XY DSD patients, one had a homozygous missense 17β-HSD3 mutation Ser65Leu (c.194C > T). We found 1 SRD5A2 novel homozygous missense mutation of Tyr242Asp (c.891T > G) in exon 5, which in-silico analyses revealed that this mutation may have deleterious impact on ligand binding site of SRD5A2 protein. Three other individuals harbored 17β-HSD3 deficiencies without identified mutations. Conclusions: SRD5A2 and 17β-HSD3 mutations are found in 10% of 46, XY DSD Iranian patients.