生物
外显子
先证者
遗传学
雄烯二酮
突变
基因型
基因
性发育障碍
睾酮(贴片)
内分泌学
表型
基因型-表型区分
内科学
激素
雄激素
医学
作者
Heba Hassan,Inas Mazen,Yehia Z. Gad,Ola Ali,Mona Mekkawy,Mona Essawi
出处
期刊:Sexual Development
[S. Karger AG]
日期:2016-01-01
卷期号:10 (2): 66-73
被引量:4
摘要
This study aimed at the detection of <i>HSD17B3</i> gene mutations in Egyptian patients with suspected diagnosis of 46,XY DSD due to 17-β-HSD-3 deficiency and at evaluation of phenotype/genotype relationship of these mutations. The study was conducted on 11 patients of 10 families which were provisionally diagnosed to have 17-β-HSD-3 enzyme deficiency. Karyotyping, hormonal evaluation of testosterone, Δ4-androstenedione, and dihydrotestosterone, and sequencing analysis of the 11 exons of the <i>HSD17B3</i> gene were done. Mutations in <i>HSD17B3</i> were detected in exons 2, 7, 8, 10, and 11, and 6 novel mutations were determined in exons 1, 2, 7, and 8. Two patients showed compound heterozygous mutations, while 8 families had probands with homozygous mutations. The current study shows that 17-β-HSD-3 deficiency is not an uncommon disorder among Egyptian DSD cases. It was evidenced that the mutational profile of the disease is rather heterogeneous, relatively different from those reported in other populations, and has a high degree of novel genetic defects.
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