A Novel Nonsense Mutation in Exon 1 of HSD17B3 Gene in an Egyptian 46, XY Adult Female Presenting with Primary Amenorrhea

作者：Hassan H A^*; Mazen I; Gad Y Z; Ali O S M; Mekkawy M; Essawi M L

来源：Sexual Development, 2013, 7(6): 277-281.

DOI：10.1159/000351822

• Disorders of sex development
• Exon 1
• 17-beta-Hydroxysteroid dehydrogenase type 3
• Nonsense mutation
• Primary amenorrhea
• 46XY-DSD

17-beta-Hydroxysteroid dehydrogenase type 3 deficiency is a rare autosomal recessive cause of 46, XY disorder of sex development. Worldwide, about 30 mutations in the hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3) gene have been reported, involving all exons except exon 1. Herein, we investigated an Egyptian female with 46, XY karyotype and low testosterone/Delta 4-androstenedione ratio. Genomic DNA was extracted from blood samples, and then, direct DNA sequencing of HSD17B3 gene was performed. The patient had a homozygous mutation c. 198G>A in exon 1 resulting in a stop codon (p.W50X). The study presents the first mutation to be reported in exon 1 of the HSD17B3 gene.

• 出版日期2013