ESPE Abstracts

Introduction: As of May 2021, German law protects children with differences of sex development (DSD), including females with congenital adrenal hyperplasia (CAH), from non-consensual genital surgery. Parents can consent only in emergencies; all other surgeries require the child's consent. Exceptions are allowed by law, with the approval of the family court following a positive decision by a multidisciplinary committee. If the family presents a positive decision of a multidisciplinary committee, the family court can decide on the status of the file. Otherwise, the court must investigate the case with appointed experts and hear the case.

Methods: Through the German Society for Paediatric Endocrinology and the German Society for Paediatric Urology, a survey was conducted to identify centres with established interdisciplinary commission that evaluate the cases and provide statements for the family court. Number of inquiries, age of children and diagnoses were collected and a descriptive analysis was performed.

Results: Within Germany, 11 pediatric clinics reported the establishment of an interdisciplinary commission containing at least an operating surgeon, pediatric endocrinologist and a psychologist. Since the enactment of the law for the protection of children with a difference of sex development in Mai 2021, 78 children have been presented to the aforementioned commissions until end of 2023. Among them, 26 out of 28 children with 46,XX karyotype had 21-hydroxylase deficiency (a mutation was documented in in 20/26 cases), two children had other form of 46,XX-DSD (virilization of external genitalia). In five children, a chromosomal DSD (45,X/46,XY or variants) was found. The largest proportion of inquiries (n = 45) were children with 46,XY-DSD, namely severe hypospadias. Of these, a confirmed mutation was given in 11 children. The median age at consultation of the surgical department was 1.05 years (IQR 1.56 years, range 0.03; 14.61 years) and at consultation of the interdisciplinary commission was 2.63 years (IQR 1.76 years, range 0.11; 15.28 years).

Conclusion: Across Germany, 11 centres reported offering consultations for children with a DSD diagnosis through an interdisciplinary commission. However, this does not ensure comprehensive care for families seeking advice nationwide. While the composition of the interdisciplinary commission is prescribed by law, the examination, education, and counselling are not standardized. Since the exact prevalence of DSD diagnoses at birth is not known, it is difficult to make a statement about completeness. Accurate recording is essential for evaluation of the process including the recommendations of the commissions.