Background: Congenital adrenal hyperplasia (CAH) is caused by different enzyme deficiency in the pathway of corticosteroid synthesis resulted in disorder of sex development (DSD) and may affect sexual identity in patients.
Objective and hypotheses: To assess gender identity in patients with CAH.
Method: In this study, 51 patients with CAH [21 children (514 years) and 30 adolescents and adults (1537 years) were assessed using sexual identity questionnaires based on the criteria of Diagnostic and Statistical Manual of Mental Disorders, 5th edition, (DSM-5), separately for children and adults. The reliability of the questionnaires was determined acceptable by the Cronbachs alpha (α) score of 0.955 for adults and 0.726 for children.
Results: In the children group, compatibility was seen between sexual identity and rearing gender. In adult group, there were three cases of mismatching between sexual identity and gender assignment composed two females (genitoplasty was done in infancy), one of them was in poor control; and one male with 21-hydroxylase deficiency. The parents and children did not agree for changing the gender in two 6-year-old girls with 11-hydroxylase deficiency (11-OHD) who had been reared as boy. One of them is 36 years old now and is depressed and unsatisfied of her gender. One 34-year-old woman with 11-OHD who had complete virilization but uterus and ovaries were saved until 12 years of age agreed for changing of gender to female after appearance of pubertal signs. She got married, has two children and is satisfied with her gender.
Conclusion: In CAH patients with DSD, gender identity disorder is a rare finding and more than 90% of patients have sexual identity compatible with gender assignment according to their karyotype except males with complete lipoid adrenal hyperplasia and 17-hydroxylase deficiency who have to be female.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology