Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.
Sex Dev. 2013;7(6):277-81. doi: 10.1159/000351822. Epub 2013 Jun 18.
17-β-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/Δ4-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.
17-β-羟类固醇脱氢酶 3 型缺乏症是一种罕见的常染色体隐性遗传 46,XY 性发育障碍的病因。在全球范围内，已经报道了大约 30 种羟类固醇（17-β）脱氢酶 3（HSD17B3）基因突变，涉及除外显子 1 以外的所有外显子。在此，我们研究了一名具有 46,XY 核型和低睾酮/Δ4-雄烯二酮比值的埃及女性。从血液样本中提取基因组 DNA，然后对 HSD17B3 基因进行直接 DNA 测序。患者在外显子 1 中存在纯合突变 c.198G>A，导致终止密码子（p.W50X）。该研究报告了 HSD17B3 基因外显子 1 中的第一个突变。
