ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Int J Mol Sci. 2019, Dec 3; 20. doi: https://www.ncbi.nlm.nih.gov/pubmed/31816857

This excellent review approaches the diagnostic investigations in DSD from the perspective of an individual with 46,XX DSD. It provides valuable information for clinicians investigating an individual with 46,XX testicular DSD.

The knowledge of gene dosage effects and the opposing gene cascades driving differentiation of the gonadal ridge into testes or ovaries during early fetal development is elegantly explained. It provides insights into the molecular explanation of male development in an individual with XX sex chromosomes. The differentiation and development of the gonads with a detailed overview of the molecular genetics is described. Informative figures illustrate sex differentiation during embryonic and fetal life and the pathways that can lead to testicular and ovotesticular differentiation in 46,XX fetuses.

The review also discusses clinical aspects and the phenotypes of individuals with different variants of XX maleness. With its detailed description of the different genes involved and their respective specific phenotypes, it provides a road map for diagnostic investigations. Informative tables list the specific mutations or genetic defects, in the absence of SRY, and describes their clinical presentation with cross references to publications of clinical cases. This provides a useful resource for the clinical work-up of patients with these complex disorders.