1. Update on the genetics of differences of sex development (DSD)
- Author
-
Martine Cools, Elfride De Baere, Hannah Verdin, and Dorien Baetens
- Subjects
0301 basic medicine ,Steroidogenic factor 1 ,Male ,Heart morphogenesis ,Endocrinology, Diabetes and Metabolism ,In silico ,Disorders of Sex Development ,Gonadal dysgenesis ,030209 endocrinology & metabolism ,Biology ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,medicine ,Animals ,Humans ,Gonadal Steroid Hormones ,Genetics ,Massive parallel sequencing ,High-Throughput Nucleotide Sequencing ,Sex Determination Processes ,medicine.disease ,Phenotype ,030104 developmental biology ,Hormone receptor ,Sex steroid ,Female - Abstract
Human 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.
- Published
- 2019