Biography
Eric Vilain, M.D., Ph.D. was born in Paris, France, and earned his M.D. from the Paris Children’s Hospital Necker, his Ph.D. from the Pasteur Institute in Paris, France, then completed a post-doctoral fellowship in Medical Genetics at the University of California, Los Angeles. He is Professor of Human Genetics, Pediatrics and Urology in the David Geffen School of Medicine at UCLA, the Chief of Medical Genetics in the Department of Pediatrics and the Director of the Center for Gender-Based Biology.
Dr. Vilain’s laboratory explores the genetics of sexual development, focusing on the molecular mechanisms of gonad development, as well as on the genetic determinants of brain sexual differentiation. He has identified a large number of mutations in sex-determining genes, developed animal models with atypical sexual development, and identified genes differentially expressed between male and female fetal mouse brains.
Dr. Vilain currently works at three projects: the genetics of Disorders of Sex Development (intersexuality), the genetics of sexual orientation and gender identity, and the biological bases of sex differences in susceptibility to diseases, particularly for Parkinson’s disease and hypertension. His research program has been continuously supported by several grants from the NIH, and he has published extensively in the field of sexual development. He is a Fellow of the American College of Medical Genetics, and a member of numerous professional committees, including those related to the care of intersex individuals.
Abstract
Disorders of Sex Development
Disorders of sex development (DSD) encompass a very large spectrum of phenotypes, from minor malformations of the genitalia (hypospadias, cryptorchidism, hypertrophy of the clitoris) to sexual ambiguity. Taken altogether, these anomalies have an estimated frequency of 0.5% to 1%. Understanding the pathophysiology of disorders of sex development has clinical consequences in terms of fertility (most patients are sterile), cancer (most patients carry a higher risk of gonadal tumor) and sexual dysfunction (most patients suffer from sexuality issues).
Recently, the debate about the management of intersex patients has intensified over issues of gender assignment and the indication for early genital surgery. Yet the scientific data on patient outcome have remained poor. The main obstacles to the optimal management of intersex patients has been a combination of lack of controlled outcome data and the lack of understanding of their pathophysiology, which prevents precise diagnostic categorization of patients.