Differences/disorders of sex development (DSD) are a heterogeneous group of congenital
conditions that result in discordance between an individual's sex chromosomes, gonads …

Human gonadal development is regulated by the temporospatial expression of many
different genes with critical dosage effects. Subsequent sex steroid hormone production …

Context The genetic basis of human sex development is slowly being elucidated, and> 40
different genetic causes of differences (or disorders) of sex development (DSDs) have now …

Disorders of sex development (DSDs) are a diverse group of conditions where the
chromosomal, gonadal or anatomical sex can be atypical. The highly heterogeneous nature …

The diagnosis and management of children born with ambiguous genitalia is challenging for
clinicians. Such differences of sex development (DSDs) are congenital conditions in which …

Abstract Context 46, XY Gonadal dysgenesis (GD) is a heterogeneous group of disorders
with a wide phenotypic spectrum, including embryonic testicular regression syndrome …

The body of knowledge surrounding reproductive development spans the fields of genetics,
anatomy, physiology and biomedicine, to build a comprehensive understanding of the later …

Several recent reports have described a missense variant in the gene NR5A1 (c. 274C> T;
p. Arg92Trp) in a significant number of 46, XX ovotesticular or testicular disorders of sex …

Disorders/differences of sex development (DSD) are the result of a discordance between
chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes …

Cis-regulatory elements are critical for the precise spatiotemporal regulation of genes during
development. However, identifying functional regulatory sites that drive cell differentiation in …