Background: Conventionally, 46 XX infants with congenital adrenal hyperplasia (CAH) were reared as females, even if considerably virilised at birth. However, lately there has been some debate on this stance, and male gender of rearing is also being considered.
Objective and hypotheses: We report on a 9 year old genetically female child (N) with salt wasting CAH reared as a male, with precocious female puberty, currently suppressed with GnRH analogs, and discuss his future management.
Method: Baby N had ambiguous genitalia at birth, and elevated serum 17-OHP, and was diagnosed with CAH due to 21 hydroxylase deficiency. Karyotype was 46 XX and ultrasound scan showed both ovaries and an infantile uterus. The external genitalia however, showed considerable virilisation (Prader stage 4). Despite extensive counselling, parents were adamant to rear the baby as a boy. He was started on long term hydrocortisone and fludrocortisone, and hypospadias repair performed. Treatment compliance and follow up were suboptimal.
Results: At 8 ½ years of age, the child presented with bleeding per urethra, and ultrasound scan revealed a haematocolpus. The bone age was significantly advanced (14 years). He was also hyper pigmented, but had not experienced adrenal crisis. He was commenced on GnRH analogues to suppress puberty, and hydrocortisone and fludrocortisone doses were optimised. Child appeared well adjusted to a male gender identity. Psychological assessment was compatible with a male gender identity and role.
Conclusion: His future management is currently being discussed at ongoing multidisciplinary meetings including endocrinology, psychology and surgical teams. We are planning to continue GnRH analogs, until patient able to give consent for oophorectomy (>18 years). The timing of male hormone replacement therapy, counselling and psychological support for the child and family and transitioning of care are ongoing issues for discussion.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology