Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.

The management of congenital adrenal hyperplasia (CAH) from pediatric to adulthood is challenging to achieve optimal growth and puberty. This study characterizes the clinical outcomes of 21-hydroxylase deficiency. 53 CAH patients were included (33 females, 15 and 18 patients with the salt-wasting [SW] and simple-virilizing [SV] forms; and 20 males, 16 and 4 patients with the SW and SV forms). We reviewed growth parameters, pubertal status, and long-term morbidities. In females, the age at pubertal onset and pubarche was 9.6±0.9 and 10.5±1.9 years respectively, which was significantly earlier in the SV form (0.005). In males, the ages at pubertal onset and pubarche were 10.1±2.0 and 10.7±2.5 years, respectively, which were not significantly different between the groups. Forty patients reached adult height: -2.1±1.6 SDS in males and -1.5±1.1 SDS in females. Obesity and overweight was significantly common in adult patients. Testicular adrenal rest tumors were found in 4 SW males. 5 patients had adrenal tumor including adenoma, adenocarcinoma, or myelolipoma. Reduced adult height and obesity/overweight are prevalent in adulthood. Adolescents and adults with 21-hydroxylase deficiency should be monitored for long-term consequences.