Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

The differential diagnosis of differences or disorders of sex development (DSD) belongs to
the most complex fields in medicine. It requires a multidisciplinary team conducting a …

Disorders of sex development (DSDs) are conditions affecting development of the gonads or
genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of …

Disorders (or differences) of sex development (DSD) are a heterogeneous group of
congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired …

The bipotential nature of cell types in the early developing gonad and the process of sex
determination leading to either testis or ovary differentiation makes this an interesting system …

During embryonic development, mutually antagonistic signaling cascades determine
gonadal fate toward a testicular or ovarian identity. Errors in this process result in disorders …

Androgens and anti-Müllerian hormone (AMH), secreted by the foetal testis, are responsible
for the development of male reproductive organs and the regression of female anlagen …

The pathways of gametogenesis encompass elaborate cellular specialization accompanied
by precise partitioning of the genome content in order to produce fully matured spermatozoa …

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 …

Differences in sex development (DSD) in patients with 46, XX karyotype occur by foetal or
postnatal exposure to an increased amount of androgens. These disorders are usually …