ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a disorder, leading to hyperandrogenaemia in the period of organogenesis of external genitalia, resulting in the disorders of sex development(DSD) in 46XX patients where external and internal genitalia do not correspond to each other. The aim of current work is to show the barriers and challenges in a 46XX patient in choosing the sex for up-bringing the child.

Case presentation: Two children in a family were diagnosed with CAH after birth with 46XX (senior-child) and 46XY (younger-child) karyotypes. The younger child has obviously normal male external and internal genitalia. The senior child has female internal and male (empty scrotum) external genitalia. The child was admitted to the hospital at 2 months old with the multicystic kidney disease and was referred to endocrinologist with hyperkalemia and weight loss. Genetic analysis was performed, CYP21A2-gene mutations were found. The treatment was started with poor compliance. The parents insisted on keeping the male sex. At the age of 5 years the child was diagnosed with Mediterranean Fever (two MEFV-gene compound-heterozygous mutations, M694V/V726A). Due to poor treatment compliance the central precocious puberty (CPP) developed at the age of 5years, breast, uterus and ovaries enlargement were revealed in contrast with the enlarged penis and pubic hair(Tanner 3-4). The bone age was accelerated and corresponded to 14 years. Parents were pushing the surgeons to do hystero-, ovaries- and breast-ectomy, but were unsuccessful. Incompliance to the treatment was documented at the inpatient clinic, the parents understood that increasing the adrenal androgens would not play a role in the sex choosing, they starting the adequate treatment for both CAH (hydrocortisone+fludrocortisone) and CPP (triptorelin injections).

Conclusion: Hyperandrogenaemia in CAH fetus prenatally can lead to ambiguous or reverse external genitalia development, which has a psychological implication for the child and the family. The choosing of the sex for upbringing the child is challenging and has many medical and social barriers also due to lack of legal regulations. Healthcare professionals should find the optimal treatment with no harm on the patient’s health condition, to consider the parents' opinion and not to ignore the right of patient’s choice.