German law on protection of children with DSD: first data on care after enactment

In May 2021, a German law was implemented to protect children with differences of sex development (DSD) from non-consensual genital surgery. In children and persons incapable of giving consent, exceptions can occur in emergencies or with the approval of the family court. To this end, a favourable opinion from an interdisciplinary DSD committee can be submitted to initiate file-based court proceedings. This study analysed the frequency of referrals post-legislation, alongside diagnoses and demographic information.

A survey by the German Society for Paediatric and Adolescent Endocrinology and Diabetology identified centres with interdisciplinary committees. Data from these centres were analysed descriptively.

Ten centres established interdisciplinary committees, evaluating 78 patients. The common karyotypes were 46,XX (36%) and 46,XY (55%), with other variations at 9%. The median age at initial presentation was 0.91 years, with most evaluations happening in surgical departments (80.8%). In 46,XX individuals, CAH due to 21-hydroxylase deficiency (21OHD) was predominant (93%), with a median Prader score of 4. In 46,XY individuals, phenotypic assessments mostly identified various levels of undervirilisation, mainly proximal hypospadias.

This study highlights the significant impact of this legislation on clinical practice for DSD in Germany. Our results show that the majority of patients with DSD assessed by the interdisciplinary committee had a diagnosis of CAH or hypospadias. The composition of the interdisciplinary committee is prescribed by law, but the approach to counselling may vary depending on the discussions within the DSD committee. Open questions include reimbursement and evaluation criteria.

In 2021, Germany introduced a law to protect children with a difference of sex development who are not yet able to give their own consent. We investigated how often specialist teams were asked by families to provide an opinion to facilitate surgery, and the changes in care that have resulted from the law. Most of the children had CAH or hypospadias.