Studies of a Cohort of 46,XY with DSD Including Steroid Biosynthesis Deficiencies
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Mutations of genes involved in sex development have been largely reported in the literature, but few data are available to evaluate the proportion of each gene defect in 46,XY DSD patients. We report molecular studies of a cohort of 644 families.
KeywordsAndrogen Receptor Gene Genetic Lesion Hormonal Data SRD5A2 Gene Suspected Defect
The authors thank all clinicians who have sent DNA of their patients.