ENVIRONMENTAL AND GENETIC EVALUATION IN 46, XY DISORDERS OF SEX DEVELOPMENT

Abstract

The newborn with abnormal genital development presents a difficult diagnostic and treatment challenge for the pediatrician. Disorders/Differences of Sex Development (DSD) are variety of congenital diseases with anomalies of the sex chromosomes, the gonads, the reproductive ducts and the genitalia. An Egyptian study has reported an incidence of one newborn with ambiguous genitalia per 3000 live births, which is relatively common. According to the latest classification of the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE) in 2006, DSD is classified into three main categories: sex chromosome DSD, 46,XY DSD and 46,XX DSD. 46,XY DSD is considered the most common type and is categorized into two major groups: disorders of testicular development and disorders of androgen synthesis, metabolism and action on the target organ. Testicular development is dependent on genes for testis determination and differentiation and on the pathway of androgen metabolism and action. In the past years, there has been growing evidence that exposure to chemicals and environmental pollutants pose a serious threat to human and animal reproductive organs. Endocrine Disrupting chemicals (EDCs) are exogenous compounds that are claimed for many sexual development disorders, many of these chemicals (which include pesticides, plasticizers, household products and detergents, pharmaceuticals and industrial chemicals) are now present in nature. In addition, humans are exposed to these chemicals through the food, dust and water via bioaccumulation.