High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia

J Clin Endocrinol Metab. 2001 Dec;86(12):5721-8. doi: 10.1210/jcem.86.12.8090.

Abstract

In male patients with congenital adrenal hyperplasia, testicular tumors, or so-called adrenal rest tumors, have been described, but their presence in well controlled patients is thought to be rare. In this study, the prevalence of testicular tumors in 17 adolescent and adult male patients with congenital adrenal hyperplasia (age, 16-40 yr) was investigated. In 16 of 17 patients, one or more testicular tumors, ranging in maximal length from 0.2-4.0 cm, were found on ultrasonography. In 6 patients, the testicular tumors were palpable. Undertreatment, defined as the presence of a salivary androstenedione level (mean of 6 saliva samples collected over 24 h with intervals of 4 h) above the upper reference morning level, was found in 5 of 17 patients at the time of investigation. The other 12 patients were treated adequately or even over treated at the time of investigation. Nevertheless, 11 of these 12 patients showed testicular tumors on ultrasonography. Neither the presence of undertreatment at the time of investigation nor characteristics of the therapeutic regimen (daily dose of hydrocortisone equivalents per body surface, the use of glucocorticoid medication either two or three times a day, or the time of taking the highest glucocorticoid dose either in the morning or the evening) could predict tumor size (maximal diameter of largest tumor). In patients who were heterozygous or homozygous for the deletion or conversion of the CYP21 gene, tumor size was significantly larger than in patients who did not have this genotype. Impairment of Leydig cell function as manifested by decreased plasma levels of T was found in 6 of 17 patients. Semen analysis in 11 patients revealed azoospermia in 3 patients and poor semen quality in 4 patients. We conclude that, when carefully sought for, testicular adrenal rest tumors are frequently present in adolescent and adult males with congenital adrenal hyperplasia and are often accompanied by impaired spermatogenesis and Leydig cell failure.

MeSH terms

  • 17-alpha-Hydroxyprogesterone / metabolism
  • Adolescent
  • Adrenal Hyperplasia, Congenital / complications*
  • Adrenal Hyperplasia, Congenital / physiopathology*
  • Adrenal Rest Tumor / diagnostic imaging
  • Adrenal Rest Tumor / epidemiology*
  • Adrenal Rest Tumor / etiology*
  • Adult
  • Androstenedione / metabolism
  • Follicle Stimulating Hormone / blood
  • Humans
  • Leydig Cells / physiology
  • Luteinizing Hormone / blood
  • Male
  • Oligospermia / etiology
  • Prevalence
  • Saliva / metabolism
  • Semen / cytology
  • Spermatogenesis
  • Testicular Neoplasms / diagnostic imaging
  • Testicular Neoplasms / epidemiology*
  • Testicular Neoplasms / etiology*
  • Testis / diagnostic imaging
  • Testosterone / blood
  • Ultrasonography

Substances

  • Testosterone
  • Androstenedione
  • 17-alpha-Hydroxyprogesterone
  • Luteinizing Hormone
  • Follicle Stimulating Hormone