Endocrine Abstracts

Atypical Genital Development (AGD) is defined as congenital conditions within which the development of chromosomal, gonadal and anatomic sex is atypical. Hypospadias represents one of the aspects of the spectrum of AGD and its less severe for in case of isolated hypospadias. Despite the Consensus Meeting in Chicago in 2005 and an overall accepted classification of ADG, numerous questions remain to be solved. The etiology of AGD and hypospadias is still unclear at the crossroads of genetics, endocrinology and environment. Environmental disrupting chemicals are particularly suspected to participate in the occurrence and the increasing incidence of genital malformations in boys. Controlled prospective studies in patients without any genetic defects on the main candidate genes strongly support the role of environment. Surgical repair of these genital defects is a challenge that aims to provide both a good functional (urinary and sexual) and cosmetic outcome. Technical aspects as well as the age of repair may be of importance. Long-term outcome is still difficult to evaluate due to the heterogeneity of the series, to a wide range of phenotypes and to the evaluation of no-longer used techniques. Prenatal diagnosis of AGD is increasing. Identification of atypical genitalia by prenatal ultrasound remains challenging compared to other defects. Reliable predictive factors to screen the most severe forms of genital malformations are still lacking. What is the clinical spectrum of genital defects diagnosed before birth? What is the rate of associated defects? How to identify predictive factors for severe phenotypes at birth? The late surgery and the no surgery alternatives have recently been proposed. The absence of vital emergency, the absence of the patient’s point of view in the early infancy and the questionable value of the parents ‘choice lead to new ethical, political and societal questions. But the no surgery option remains a choice. Pros and cons of each attitude remain a hot topic.