Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia

J Clin Res Pediatr Endocrinol. 2020 Dec 30. doi: 10.4274/jcrpe.galenos.2020.2020.0216. Online ahead of print.


Objective: We aimed to retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia who were raised male.

Methods: A national database was created. The data of patients were asked to be recorded in the data form.

Results: The median age of diagnosis was 3 (0.1-18.3) years in 44 patients. Twenty nine cases were diagnosed after age of two years. Ninety five point four percent of cases were stage 4-5 virilized. Hysterectomy and bilateral salpingoopherectomy at the median age of 7.25 (2.4-25.3) were performed in 35 cases. Testicular prosthesis was placed in 11 (25%) cases. Median age of testicular prosthesis replacement was 11.2 (2.8-17) years. The final height was mean 149.2 cm (132.8-172) in 38 patients (simple virilizing (n=18), salt-wasting (n=6), 11 beta hydroxylase (n=12)). Of the 16 patients above the age of eighteen, university education was completed in 25% of cases.

Conclusion: It was seen that most of the 46,XX CAH cases raised male (2/3) were diagnosed after 2 years of age. In these cases, hysterectomy and bilateral salpingoopherectomy, genital corrective surgeries and testicular prosthesis operations were performed in a very wide age rage.

Keywords: 46,XX; congenital adrenal hyperplasia; final height.