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Background:  Life threatening conditions are associated with atypical genitalia in newborns. Analysis of genetic sex provides a clue to the underlying etiology in newborns with disorders of sex development (DSD) and can guide further endocrine investigations. Rapid diagnosis of genetic sex would be immensely useful in this situation. Traditionally used methods such as karyotype and fluorescence in situ hybridisation are time-consuming.

journal of pediatric endocrinology and metabolism

Clinical applicability of rapid detection of  SRY  and  DYS14  genes in patients with disorders of sex development using an indigenously developed 5′ exonuclease based assay