Introduction

What is a disorder of sex development?

Any patient who has an anomaly of his/her chromosomal, gonadal or anatomic sex characteristics or reproductive structures is considered to have a disorder of sex development (DSD). An attempt at a comprehensive review of this topic is difficult since this is a rapidly changing field. The changes have been driven by poor outcomes resulting in the number of different approaches that have been proposed in the last decade.

In 2006, a 50 member team of providers and advocates met to discuss multiple issues regarding DSD patients including the nomenclature of the various diagnoses. This meeting, known as the International Consensus Conference on Intersex, settled on DSD as the umbrella term of choice [1]. Many terms that were previously used to describe patients with these diagnoses are no longer used because patients found them offensive. Therefore, terms like hermaphrodite or pseudohermaphrodite were replaced with more descriptive terms such as XX DSD and XY DSD among other categories. Words like ambiguous and intersex are still used to some extent. Categories of terms based on karyotype allow a common language to be used across different fields and in different countries. Some advocacy groups have suggested the term differences of sex development be used. Ongoing studies are examining the use of these terms and also seek to have patients decide which nomenclature is most helpful or appropriate by administering surveys to affected individuals. The initial results favor genital difference or variation in genitalia over DSD [2].

In July of 2017, a project from the Human Rights Watch organization reported on a set of interviews that were obtained from patients, caregivers and providers [3]. The authors documented continued pressure placed onto parents for early normalizing surgery and several surgical organizations have responded to the report including the Society of Pediatric Urology [4] and the North American Society of Pediatric and Adolescent Gynecology [5]. This issue of early or delayed surgery or no surgical intervention at all is a central one in the ongoing discussion and pediatric surgeons need to be fully informed of these concerns.

see also Congenital Adrenal Hyperplasia, Cloaca, Cloacal Exstrophy

content in this topic is references in SCORE Disorders of Sex Development overviewVaginal Atresia, Hydrometrocolpos overview