A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome

被引：13

作者：

Ilaslan, Erkut ^{[1
]}

Calvel, Pierre ^{[4
,5
]}

Nowak, Dominika ^{[1
]}

Szarras-Czapnik, Maria ^{[2
]}

Slowikowska-Hilczer, Jolanta ^{[3
]}

Spik, Anna ^{[1
]}

Sararols, Pauline ^{[4
]}

Nef, Serge ^{[4
]}

Jaruzelska, Jadwiga ^{[1
]}

Kusz-Zamelczyk, Kamila ^{[1
]}

机构：

[1] Polish Acad Sci, Inst Human Genet, Strzeszynska 32, PL-60479 Poznan, Poland

[2] Childrens Mem Hlth Inst, Dept Endocrinol & Diabet, Warsaw, Poland

[3] Med Univ Lodz, Dept Androl & Reprod Endocrinol, Lodz, Poland

[4] Univ Geneva, Dept Genet Med & Dev, Fac Med, Geneva, Switzerland

[5] Univ Paris Saclay, GABI, INRA, AgroParisTech, Jouy En Josas, France

来源：

SEXUAL DEVELOPMENT | 2018年 / 12卷 / 04期

基金：

瑞士国家科学基金会;

关键词：

Disorders of sexual development; STAR; STARD8; Testosterone synthesis; ACUTE REGULATORY PROTEIN; EXPRESSION; CELLS;

D O I：

10.1159/000489692

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Identification of novel genes involved in sexual development is crucial for understanding disorders of sex development (DSD). Here, we propose a member of the START domain family, the X chromosome STARD8, as a DSD candidate gene. We have identified a missense mutation of this gene in 2 sisters with 46,XY gonadal dysgenesis, inherited from their heterozygous mother. Gonadal tissue of one of the sisters contained Leydig cells overloaded with cholesterol droplets, i.e., structures previously identified in 46,XY DSD patients carrying mutations in the STAR gene encoding another START domain family member, which is crucial for steroidogenesis. Based on the phenotypes of our patients, we propose a dual role of STARD8 in sexual development, namely in testes determination and testosterone synthesis. However, further studies are needed to confirm the involvement of STARD8 in sexual development. (C) 2018 S. Karger AG, Basel

引用

页码：191 / 195

页数：5

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