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Testicular Adrenal Rest Tumors and Leydig and Sertoli Cell Function in Boys with Classical Congenital Adrenal Hyperplasia

Endocrinology Unit, Department of Pediatrics (A.M.-A., A.R., A.C.); Department of Radiology and Pediatrics (C.G., R.P.); and Molecular Biology Laboratory (M.L., L.V., H.P.), School of Medicine (N.R.), Pontificia Universidad Católica de Chile, 833-0074, Santiago, Chile

Address all correspondence and requests for reprints to: Alejandro Martinez-Aguayo, M.D., Pontificia Universidad Catolica de Chile, 833-0074, Santiago, Chile. E-mail: alemarti{at}med.puc.cl.

Context: Infertility observed in adult males with congenital adrenal hyperplasia (CAH) has been associated with testicular adrenal rest tumors (TART) that may originate during childhood.

Objective: Our objective was to describe the prevalence of TART and Sertoli and Leydig cell function in a group of boys aged 2–10 yr with CAH and to compare prevalence with that of a control group.

Design: From August 2005 to January 2007, 19 patients with classical CAH (CAH group) were referred from seven endocrinology centers.

Methods: We studied 19 subjects in the CAH group and, as a control group, 13 boys from the community that did not have testicular diseases. A complete physical exam was performed. High-resolution ultrasound was used to determine TART prevalence. Inhibin B and anti-Müllerian hormone were used as Sertoli cell markers. The ratio between basal testosterone levels and testosterone levels 72 h after β-human chorionic gonadotropin (5000 U/m²) treatment [(T₇₂– T₀)/T₀] was used to evaluate Leydig cell response.

Results: CAH and control groups were comparable in chronological age (5.9 vs. 5.6 yr; P = 0.67) and bone age/chronological age ratio (1.09 vs. 1.03; P = 0.09). TART prevalence was four of 19 (21%) in the CAH group. Lower values for inhibin B (49.2. vs. 65.2 pg/ml; P = 0.018), anti-Müllerian hormone (70.1 vs. 94.2 ng/ml; P = 0.002), and (T₇₂– T₀)/T₀ (5.6 vs. 13.6; P < 0.01) were observed in the CAH group.

Conclusion: TART in prepubertal males with classic CAH could be found during childhood. We also report differences in markers of gonadal function in a subgroup of patients, especially in those with inadequate control.

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