IMPE Abstracts

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders. Defects in the 21-hydroxylase (21OH) enzyme make up 90% of CAH. These defects result in androgen excess in salt-wasting or simple virilizing forms. As androgens play a role in human psychosexual development, this study was designed to evaluate the impact of androgens on the psychosexuality of individuals with CAH due to 21OH deficiency.

Methods: This retrospective cohort includes 123 individuals (115 female-assigned; 8 male-assigned) with a molecular diagnosis of CAH due to CYP21A2 gene defects. External genitalia virilization was scored using the Prader scale. Phenotype, time at diagnosis, sex assignment, and gender change were all assessed. The gender role in childhood was assessed through the playmates and toys profile in childhood. Gender identity was assessed by a projective psychological test (HTP), whereas sexual orientation was through self-report sexual identity. Compliance with glucocorticoid replacement was assessed by testosterone and androstenedione serum levels. As far as statistical analyses are concerned, the Shapiro–Wilk test was used to test the normal distribution. Association between categorical variables was analyzed using χ2 tests and contingency tables (2 × 2), followed by magnitude estimative using Cramer's V. The kappa test was used as a concordance estimative. A p-value less than 0.05 was considered significant.

Results: CAH was diagnosed during the neonatal period in 73% of patients (n=78). Fifth-nine (51%) had the salt-wasting form (SW), and 49% (n=56) had the simple virilizing form (SV). All SW cases were diagnosed in the neonatal period (0.12 ± 0.14 months), whereas the mean age at diagnosis among SV was 6.03 ± 8.45 years (P=<.001). The median Prader score was 3 in both phenotypes. Male sex assignment was associated with more virilized external genitalia at birth (P=.002). Gender changing from female to male occurred in 6 cases, of which most had SV form (5/6; P=.004) and late-onset therapy (>2 years old), and poor compliance. A total of 13% (n=15) defined themselves as homosexual; all of them, except one, presented increased androgen levels during childhood. There was no correlation between Prader scores and sexual orientation or gender change.

Conclusion: In this large CAH series from a single tertiary center suggest that postnatal androgen exposure plays a role in the 46, XX CAH patient's psychosexuality.