Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia

J Clin Endocrinol Metab. 2007 Dec;92(12):4583-9. doi: 10.1210/jc.2007-0383. Epub 2007 Sep 25.


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 beta-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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Hyperplasia, Congenital / complications
  • Adrenal Hyperplasia, Congenital / genetics
  • Adrenal Hyperplasia, Congenital / physiopathology*
  • Adrenal Rest Tumor / complications
  • Adrenal Rest Tumor / genetics
  • Adrenal Rest Tumor / physiopathology*
  • Anthropometry
  • Anti-Mullerian Hormone / metabolism
  • Child
  • Child, Preschool
  • DNA / genetics
  • Hormones / blood
  • Humans
  • Inhibins / metabolism
  • Leydig Cells / physiology*
  • Male
  • Sertoli Cells / physiology*
  • Testicular Neoplasms / complications
  • Testicular Neoplasms / genetics
  • Testicular Neoplasms / physiopathology*


  • Hormones
  • inhibin B
  • Inhibins
  • Anti-Mullerian Hormone
  • DNA