Differences or disorders of sex development are a group of heterogeneous conditions, which most commonly present in the newborn period, with the appearance of atypical genitalia on newborn examination. Over recent years, the improvement in our knowledge of these conditions has been accompanied by advances in diagnostic technology and therapeutic options, as well as societal shifts in attitudes and expectations. These factors have placed an even greater emphasis than before on the need for early expert input through a multidisciplinary service that can support the patient and the family; perform and interpret the investigations required to reach a diagnosis; and formulate a management plan that lays down the foundation for optimal long-term outcome. While providing a regional service, the expert team should also be committed to research and quality improvement through participation in national and international networks.
Keywords: endocrinology; genetics; neonatology.
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.