Pathophysiological Bases for the Classification of the Human Sex Development Anomalies

Abstract

Purpose: To expose a pathophysiological and clinical classification of the anomalies in the sex development more appropriate for the moment and current knowledge after analyzing the processes of sex determination and sex differentiation in the human sex development. Methods: Revision of the topic "Anomalies in the Sex Development" as presented in books on Obstetrics and Gynecology and search in Medline, Google Scholar and references in articles of all the papers related to Desorders of Sex Development published in recent years. Synthesis of data: Human sex development can be divided into two different processes:1) sex determination; and 2) sex differentiation, which takes place through hormones produced by gonads information or once formed. In this review, the elements included in both sex determination (chromosomal sex, genetic sex and gonadal sex) and posterior sex differentiation (hormonal sex, gonophoric sex, phenotypic sex and others) are analyzed, also considering all embryological aspects, proposing a new nomenclature and exposing later in detail a pathophysiological and clinical classification of the anomalies in the human sex development (ASDs). Conclusions: New terms and a pathophysiological and clinical classification for the ASDs are proposed.