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

Publication date: Available online 13 April 2019Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Dorien Baetens, Hannah Verdin, Elfride De Baere, Martine CoolsAbstractHuman 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.
Source: Best Practice and Research Clinical Endocrinology and Metabolism - Category: Endocrinology Source Type: research