Genetic Disorders of Human Sexual Development (Oxford Monographs on Medical Genetics)

There have been many exciting advances in our understanding of mammalian sex determination and differentiation in the last decade. Using these advances to elucidate clinical conditions of abnormal sexual development, the authors bring together great expertise in molecular endocrinology, molecular genetics, and dysmorphology. The text begins with a discussion of normal gonadal and sexual development that presents enough embryology, biochemistry, and endocrinology to make the remaining chapters easy to assimilate. Then the authors discuss overarching clinical issues that are common to genetic abnormalities of gonadal and sexual development, providing a detailed account of genetic causes of gonadal maldevelopment, followed by a compendium of the singular, syndromal, endocrinologic, and systemic-metabolic genetic causes of sexual maldevelopment. The final section describes genetic forms of gamete failure.
Seldom dogmatic, this unconventional textbook frequently presents alternatives, highlights speculation, raises questions, and attempts to provide answers. Yet it will be a uniquely valuable reference on an area of genetic medicine where much has happened in recent years. This book will be welcomed by medical geneticists, genetic counselors, endocrinologists, gynecologists, urologists, and students who need fully-referenced information about the genetic aspects of humans sexual maldevelopment in order to better manage their patients and their patients families.

Leonard Pinsky, M.D., is Chairman of the Department of Human Genetics and Professor in the Departments of Human Genetics, Medicine, and Pediatrics at McGill University. He also serves as Director of the Division of Genetics at Sir Mortimer B. Davis-Jewish General Hospital and Co-Director of the Androgen Receptor Laboratory at the Lady Davis Institute for Medical Research in Montreal.