J Endocrinol Invest. 2026 Jul 13. doi: 10.1007/s40618-026-02984-3. Online ahead of print.
ABSTRACT
BACKGROUND: Testicular adrenal rest tumors (TARTs) are benign, hormonally responsive testicular lesions in male patients with congenital adrenal hyperplasia (CAH). TARTs represent a leading contributor to gonadal dysfunction and infertility in this population. This study aimed to investigate the clinical and genetic characteristics of TARTs and to identify clinical indicators that may facilitate their early detection.
METHODS: A retrospective cohort study included 38 male patients with biochemically and molecularly confirmed CAH who were followed at our pediatric endocrinology clinic between January 2019 and January 2025. Demographic characteristics, underlying enzymatic defects, CYP21A2 and CYP11B1 genotype, clinical phenotype, hormonal profiles-including adrenocorticotropic hormone (ACTH) and 17-hydroxyprogesterone (17-OHP) concentrations-pubertal status, skeletal maturation as assessed by bone age, and scrotal ultrasonographic findings were systematically retrieved from medical records and analyzed.
RESULTS: TARTs were identified in 14 of 38 patients, corresponding to a prevalence of 36.8%. Of the affected individuals, 12 (85.7%) harbored 21-hydroxylase deficiency and 2 (14.3%) had 11β-hydroxylase deficiency. No statistically significant differences were observed in ACTH or 17-OHP levels between patients with and without TART (p = 0.75 and p = 0.36, respectively). TARTs were significantly more prevalent among patients with the salt-wasting phenotype relative to other clinical forms (p = 0.002) and among pubertal compared with prepubertal patients (p = 0.016). Skeletal maturation, as reflected by bone age advancement, was significantly more pronounced in the TART-positive group (p = 0.012). Multivariable logistic regression analysis identified bone age advancement (OR = 1.76; 95% CI: 1.10-2.83; p = 0.019) and pubertal status (OR = 12.5; 95% CI: 1.7-91.6; p = 0.013) as factors independently associated with the presence of TART.
CONCLUSIONS: Bone age advancement was independently associated with the presence of TART and may represent a clinically useful marker associated with TART in male patients with CAH. These findings suggest that bone age assessment may complement isolated hormonal measurements and may help identify patients who could benefit from closer ultrasonographic surveillance. Early detection and timely therapeutic intervention remain important for preserving gonadal function and future fertility.
PMID:42440236 | DOI:10.1007/s40618-026-02984-3
