Familial Case of 46,XY Disorder of Sex Development DSD and Congenital Heart Defects (CHD) Associated with a Mutation in GATA4.

Bashamboo, Anu; Lourenço, Diana; Rybczynska, M; Nihoul‐Feketé, Claire; Brauner, Raja; McElreavey, Kenneth

doi:10.1210/endo-meetings.2010.part3.or1.or21-1

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In mouse embryos, a homozygous null mutation in any one of these genes causes gonadal agenesis. While the function of these five factors have mainly been characterized in mice, mutations in three of these genes (NR5A1, WT1 and GATA4) have also been found in patients with DSD, indicating a conserved role in reproductive development (Bashamboo et al 2010b, Kohler et al 2011, Lourenco et al 2011. However, these genes are expressed and function in many developing organ systems, meaning the loss of function in both mice and humans produce a range of phenotypes beyond the reproductive tract (Ingraham et al 1994, Klamt et al 1998, Hammes et al 2001, Tevosian et al 2015.…”

Section: Genes Essential For Initial Gonad Formationmentioning

confidence: 99%

The molecular pathways underlying early gonadal development

Yang

Workman

Wilson

2019

Journal of Molecular Endocrinology

View full text Add to dashboard Cite

The body of knowledge surrounding reproductive development spans the fields of genetics, anatomy, physiology and biomedicine, to build a comprehensive understanding of the later stages of reproductive development in humans and animal models. Despite this, there remains much to learn about the bi-potential progenitor structure that the ovary and testis arise from, known as the genital ridge (GR). This tissue forms relatively late in embryonic development and has the potential to form either the ovary or testis, which in turn produce hormones required for development of the rest of the reproductive tract. It is imperative that we understand the genetic networks underpinning GR development if we are to begin to understand abnormalities in the adult. This is particularly relevant in the contexts of disorders of sex development (DSDs) and infertility, two conditions that many individuals struggle with worldwide, with often no answers as to their aetiology. Here, we review what is known about the genetics of GR development. Investigating the genetic networks required for GR formation will not only contribute to our understanding of the genetic regulation of reproductive development, it may in turn open new avenues of investigation into reproductive abnormalities and later fertility issues in the adult.

show abstract