一例17β-羟类固醇脱氢酶3型缺陷症病例家系的基因研究

Genetic study of a pedigree with 17β-hydroxysteroid dehydrogenase 3 deficiency

分析1例17β-羟类固醇脱氢酶3型缺陷症病例家系的HSD17B3基因序列变化。先证者社会性别女性,15岁,因“原发性闭经”就诊,双侧腹股沟区可扪及睾丸,激素检查高雄烯二酮、低睾酮,妇科超声未探及子宫卵巢,染色体核型46,XY。其妹8岁,因“家族史”就诊,查染色体核型46,XY。 HSD17B3基因测序显示姐妹二人为c.852G〉A（p. W284X）纯合突变,父母为相应的杂合突变。

[Summary] The genetic characteristics of a pedigree with a tentative diagnosis of 17β-hydroxysteroid dehydrogenase 3 deficiency were analyzed. The proband was 15 years old and was raised as a girl, referring to us for failure to menstruate. Testes could be touched in bilateral inguinal regions, and endocrine tests revealed elevated serum androstenedione and decreased testosterone. Gynecological ultrasonography did not detect uterus or ovary, and the karyotype analysis revealed 46,XY. Her younger sister was 8 years old, coming to us because of＂family history＂, and her karyotype was 46,XY too. HSD17B3 gene sequencing results showed a novel c. 852G〉A（p. W284X） homozygous mutation among the two sisters, and the corresponding heterozygous mutation in their parents.