The umbrella term disorders of sexual development (DSD) encompasses a broad spectrum of congenital conditions with atypical chromosomal, gonadal or anatomic sex development.1,2 These conditions include mosaic chromosomal disorders, gonadal disorders of development, disorders of androgen synthesis, action or excess, and anatomical disorders, such as cloacal anomalies or mullerian structural errors.1 The incidence of DSD is estimated to be around 1% of all live births.2

Families of children with DSD are frequently tasked with making important decisions pertaining to the medical, surgical and psychological care of their child without a clear understanding of the long-term implications of those decisions.2,3 In 2006, the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology issued a consensus statement on the care of DSD conditions and emphasized the importance of parents being informed about their child’s sexual development.1 Although web-based resources exist, families often lack guidance on how to critically assess this information or what specific questions they should be asking to better understand what to expect during puberty, what their child’s fertility potential will be, and what possible reproductive options exist.

While some DSD disorders have higher fertility potential compared to others, the overall fertility potential in individuals affected with DSD is low.4 When families are making early medical and surgical decisions, sexual health and reproductive capability are often overlooked with a greater focus on genital appearance and gender identity. However, sexual health is an important aspect of quality of life for individuals with DSD.1,5 Multidisciplinary groups have urged the reconsideration of early, often irreversible, appearance-altering surgeries to allow for more informed decision-making. Although these reconstructive surgeries address concerns regarding outward appearance and address potential obstruction of urine or menses, the future implications of these surgeries, such as diminished sexual sensitivity, are important to consider before proceeding.6

This article aims to address the gap in information and lack of guidance for families of children affected by DSD, focusing on the functional pubertal differences, fertility challenges and reproductive options for DSD conditions. We highlight useful materials to review anatomy and function and encourage processes for patient education delivered at key milestones so that families and individuals with DSD are better informed and supported.