Hormonal control during infancy and testicular adrenal rest tumor development in CAH males - a retrospective multi-center cohort study.

Abstract

Testicular adrenal rest tumors (TART), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone (ACTH) exposure during early life may promote TART development. This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development. This retrospective multicenter (n = 22) open cohort study collected longitudinal clinical and biochemical data of the first 4 years of life using the I-CAH registry and included 188 male patients (median age 13 years; IQR: 10-17) with 21-hydroxylase deficiency (n = 181) or 11-hydroxylase deficiency (n = 7). All patients underwent at least one testicular ultrasound. TART were detected in 72 (38%) of the patients. Prevalence varied between centers. When adjusted for CAH phenotype, a delayed CAH diagnosis of more than 1 year, compared to a diagnosis within 1 month of life, was associated with a 2.6 times higher risk of TART diagnosis. TART onset was not predicted by biochemical disease control or bone age advancement in the first four years of life, but increased height SDS at the end of the four-year study period was associated with a 27% higher risk of TART diagnosis. A delayed CAH diagnosis of more than 1 year versus CAH diagnosis within one month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life.