Differences of sex development (DSD) occur in about 1 in 3000 newborns in Switzerland. The indication and timing of genitoplasty in children with DSDs is a complex issue. In 2012 the Swiss National Advisory Commission on Biomedical Ethics published its position against early irreversible interventions in order to "normalize" the aspect of the external genitalia.
We report the case of a child with a 46,XX DSD due to a classical form of congenital adrenal hyperplasia (CAH) with severe virilization (Prader stage V). Direct DNA sequencing of CYP21A2, showed two maternal (IVS2-13A/C>G; p.Val281Leu) and one paternal mutation (p.Arg354Cys). The interdisciplinary team took care of the patient and the family according to the consensus statement on care of DSD individuals. In agreement with the parents, female gender was assigned and no surgery planned until the child could participate in the decision making. When the child was 3 years old, the parents informed the team that they had met a surgeon in their home country and that they planned genitoplasty in one month. The Clinical Ethics Committee of the hospital was convened to reflect on the situation. Despite their and our advice to postpone surgery the family decided to go forward with the surgery and left Switzerland.
Determining the best care and interests of this child remain a big challenge, and his future development unknown. Human rights organizations defend the children's right to physical integrity and to defer any normalizing interventions on genitalia until the concerned individual can give his consent. However, studies showed that a majority of CAH women thought that genitoplasty should occur within in the first year of life. The dsd-LIFE study reported that only 0.5% of 46,XX CAH women had a gender change after puberty. Few case reports document the outcome of male gender assignment in severely virilized CAH girls. Our case highlights the dilemmas a team may encounter. The local ethics committee role was to give an external, unbiased view. Our experience shows the importance of assessing the parents' capacity to cope with their child's difference and the perception of society, while ensuring the most open and the least prejudicial decision for the child's psycho-sexual future. More research will be needed to base our recommendations on solid results from the DSD community, but every patient and his family will still need an individual approach and personalized care.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology