The aims of this study are to determine the prevalence of mutations in known genes and to identify novel genes for sex determination. These patients include: 46, XX testicular DSD, 46 XY DSD (partial or pure gonadal dysgenesis), and 46,XX DSD (gonadal dysgenesis or agenesis). In this study, we perform sequence analysis of SRY, DHH, and SF1 and high-density array comparative genomic hybridization (CGH) to identify mutations and gene deletions or duplications responsible for the above phenotypes. We also perform immunohistochemistry of gonadal tissues for new candidate genes. Dr. Harry Ostrer, the principal investigator, is available to provide clinical consultation to physicians. The consent and requisition forms are attached.

Harry Ostrer, M.D.
Professor of Pediatrics, Pathology and Medicine Director, Human Genetics Program New York University School of Medicine 550 First Avenue, MSB 136 New York, NY 10016 tel 212 263-7596 fax 212 263-3477 email harry.ostrer@med.nyu.edu

DSD Request Form (PDF 112 KB)

IRB (PDF 618 KB)