An Update on Genetics of Disorders of Sexual Development Along with Signal Transduction Pathways-Clinical Implications: A Review

Sex determination in mammals is different, as a single bipotential gonad can develop either into a testes or an ovary. If this genetic process which is largely complex gets disrupted during development of a human being it can lead to disorders of sex development. There are two separate processes by which sex development takes place namely i) sex determination whereby the bipotential gonad forms either a testes or ovaries and sex differentiation of internal and external genitalia along with extragonadal tissues like the brain. DSD’s may occur due to different genetic lesion pathways. In this review we have concentrated in details of various genetic pathways causing DSD’s and signal transduction pathways by which various manifestations of gonadal forms like gonadal dysgenesis to ovotestis and genital forms from mild hypospadias or clitoromegaly to ambiguous genitalia phenotype may result. Here we do not touch on sex differentiation of internal genitalia and external genitalia. Keywords: DSD’s; Genetics; Signal Transduction System; Ambiguous Genitalia; Gonadal Dysgenesis; Ovotestis