Medical Management of Children with Disorders of Sex Development: An Overview

Differences in Sex Development (DSD) refer to differences or discrepancies in the genetic, anatomical and gonadal sex. DSD management is a long journey of the family with a multidisciplinary team of neonatologist/paediatrician, paediatric endocrinologist, paediatric surgeon, geneticist and psychiatrist/psychologist. The management encompasses gender assignment, medical treatment with hormones, surgical corrections, assessment and counselling for gender dysphoria, and long-term follow-up for issues like marriage, sexual function, fertility and psychological problems. In children with 46 XX DSD due to congenital adrenal hyperplasia, medical management is the mainstay. Treatment and prevention of adrenal crisis and ensuring normal growth and pubertal development requires close monitoring and adjustment of steroid doses. For children with 46 XY DSD due to hypogonadotropic hypogonadism, topical or intramuscular testosterone is the mainstay for management of micropenis in infancy and for development of secondary sexual characters in adolescence. Hormonal replacement is necessary for pubertal induction in children with several types of DSD including gonadal dysgenesis and androgen biosynthetic defects. On the other hand, pubertal suppression may be needed in a few cases where pubertal development is opposite to the child’s gender identity. It is important to remember that treatment with sex steroids may also lead to irreversible changes in the genital anatomy, and hence, as for surgical management, the principles of informed consent, shared decision-making with the child’s long-term interests in mind, participation of the child to the extent possible, guided by their age and maturity level, and deferring irreversible hormonal treatments to a time when child’s gender identity can be assessed should be followed.