In 46, XY men, testis is determined by a genetic network (s) that both promotes testis
formation and represses ovarian development. Disruption of this process results in a lack of …

While 7% of the men are infertile, currently, a genetic etiology is identified in less than 25%
of those men, and 30% of the infertile men lack a definitive diagnosis, falling in the …

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 …

Mammalian sex chromosomes are highly conserved, and sex is determined by SRY on the
Y chromosome. Two exceptional rodent groups in which some species lack a Y …

Sex determination occurs early during embryogenesis among vertebrates. It involves the
differentiation of the bipotential gonad to ovaries or testes by a fascinating diversity of …

Sex determination in mammals is governed by antagonistic interactions of two genetic
pathways, imbalance in which may lead to disorders/differences of sex development (DSD) …

Enhancers are a class of regulatory elements essential for precise spatio-temporal control of
gene expression during development and in terminally differentiated cells. This review …

Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from
congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare …

Pancreatic ductal adenocarcinoma (PDAC) is the most common type of pancreatic cancer,
characterized by high tumor heterogeneity and a poor prognosis. Inter-and intra-tumoral …

Several new genes and pathways have been identified in recent years associated with
human errors of sex-determination or DSD. SOX family gene mutations, as well as mutations …