Genes, chromosomes, and disorders of sex development: an update

Disorders of sex development (DSD) comprise a group of conditions in which genotypes do not correlate with the typical male and female phenotypes. Numerical and structural abnormalities involving both autosomes and sex chromosomes have been observed in DSD. Specifically, deletions, duplications, and translocations involving specific genes as well as point mutations and less common aberrations have been implicated in the pathogenesis of these conditions. Finally, recent advances in analytical tools, namely chromosomal microarrays and sequencing methods, have greatly enhanced the precision with which DSD are genetically characterized and phenotypically correlated. Herein, we review the genes and loci involved in the pathogenesis of disorders of sex development based on recent findings and illustrate the importance of cytogenetics and molecular genetics in the clinical management of these conditions.