Update on the genetics of differences of sex development (DSD)

被引：45

作者：

Baetens, Dorien ^{[1
,2
,3
,4
]}

Verdin, Hannah ^{[1
,2
]}

De Baere, Elfride ^{[1
,2
]}

Cools, Martine ^{[3
,4
]}

机构：

[1] Univ Ghent, Ctr Med Genet, Dept Biomol Med, Ghent, Belgium

[2] Ghent Univ Hosp, Ghent, Belgium

[3] Ghent Univ Hosp, Dept Internal Med & Pediat, Div Pediat Endocrinol, Ghent, Belgium

[4] Univ Ghent, Ghent, Belgium

来源：

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM | 2019年 / 33卷 / 03期

关键词：

differences of sex development; gonadal dysgenesis; developmental genetics; steroidogenesis; massively parallel sequencing; GATA TRANSCRIPTION FACTORS; GONADAL DEVELOPMENT; 46; XY DISORDERS; ANDROGEN INSENSITIVITY; STEROIDOGENIC FACTOR-1; HEART MORPHOGENESIS; NUCLEAR RECEPTOR; FOXL2; REVERSAL; FEMALE;

D O I：

10.1016/j.beem.2019.04.005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Human gonadal development is regulated by the temporospatial expression of many different genes with critical dosage effects. Subsequent sex steroid hormone production requires several consecutive enzymatic steps and functional hormone receptors. Disruption of this complex process can result in atypical sex development and lead to conditions referred to as differences (disorders) of sex development (DSD). With the advent of massively parallel sequencing technologies, in silico protein modeling and innovative tools for the generation of animal models, new genes and pathways have been implicated in the pathogenesis of these conditions. Here, we provide an overview of the currently known DSD genes and mechanisms involved in the process of gonadal and phenotypical sex development and highlight phenotypic findings that may trigger further diagnostic investigations. (C) 2019 Elsevier Ltd. All rights reserved.

引用

页数：20

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