The state of the Sertoli cells in the children and adolescents presenting with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Abstract

Introduction. Compromised fertility is one of the main health-related problems encountered by men suffering from 21-hydroxylase deficient congenital adrenal hyperplasia (CAH). This condition can be attributed either to the disease itself or to the presence of the testicular adrenal rest tissue (TART). The dysfunction of the reproductive system can be diagnosed as early as the childhood and adolescence based on the reduced levels of anti-müllerian hormone (AMH) and inhibin B, i.e. the specific markers of Sertoli cell activity. Materials and methods. We have examined 53 patients at the age varying from 1 to 19 years presenting with the confirmed diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia and 21 children aged from 6 to 17 years free from endocrine pathology (the control group). Special attention was given to the elucidation of the relationship between the inhibin B and AMH levels, the clinical form of the disease, and the presence of TART. Results. The level of inhibin B in the patients with congenital adrenal hyperplasia at the onset of puberty turned out to be lower compared with that in the control group, regardless of the form of the disease. The presence of TART was documented in 9 patients (30%) with salt-wasting CAH (SW CAH) and in 1 patient (4.3%) having the simple virilizing form of CAH (SV CAH). The patients with TART had a lower level of inhibin B but not AMH. Conclusion. The excessive production of androgens does not exert a negative influence on the activity of the Sertoli cells in the boys suffering from congenital adrenal hyperplasia prior to puberty. The lowered level of inhibin B during the pubertal period, in the absence of reduction of the AMH level, suggests dysfunction of the Sertoli cells. The dysfunction during puberty is especially well apparent in the presence of TART.