Management of disorders of sex development - With a focus on development of the child and adolescent through the pubertal years

Abstract

Disorders of sex development, congenital conditions in which chromosomal, gonadal or anatomic sex is atypical at birth, require urgent assessment by a multidisciplinary team, to define whether there is a life threatening disorder of congenital adrenal hyperplasia or a healthy child with a complex condition. Uncertainty, stigma and taboo complicate counselling which must be knowledgeable, comprehensive and sensitive to different circumstances, religions and cultures. This articles will discuss clinical and genetic diagnosis, decisions regarding sex of rearing, ethical dilemmas, medical management of the infant and of the child or adolescent presenting for the first time with a DSD. Surgical options, timing and management are outlined.

Keywords: DSD counselling; congenital adrenal hyperplasia; disorder of sex development (DSD); genital ambiguity; mixed gonadal dysgenesis.