Increased Prevalence of Testicular Adrenal Rest Tumours during Adolescence in Congenital Adrenal Hyperplasia

Abstract

Testicular adrenal rest tumours (TART) are one of the most important causes of infertility in adult male patients with congenital adrenal hyperplasia (CAH). These benign tumours are already detected in children, but screening of TART is not routinely performed. Objective: To define retrospectively the prevalence of TART in 41 paediatric male CAH patients aged 0-19 years regularly followed by high-frequency (F_central 12-MHz) ultrasound techniques. Results: Above the age of 10 years, there was a clear increase in the prevalence of TART: 10-12 years, 28% (2 of 7 patients), 13-14 years, 50% (4/8), and 15-16 years, 75% (3/4). Above the age of 16 years, TART were detected in 100% of the patients (7/7). The tumours were not detectable by palpation. Conclusion: TART is already present in childhood with an increasing prevalence after onset of puberty. We recommend regular ultrasound from the onset of puberty in all boys with classic CAH.

Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with Its Development in Congenital Adrenal Hyperplasia

“…Compared to other authors [8, 27], however, the prevalence in this study was low. Kang et al [27] found TART in 64.6% of 48 patients aged 10.6–27.1 years, who had 82.4% of 17-OHP dosages above 10 ng/mL; this percentage was higher than that found in this study in the 6 years before ultrasonography (41.7%).…”

“…We also believe that the prevalence among pubertal patients in this study (18.5%) is lower than that of Claahsen-van der Grinten et al [8] probably because these patients had a better control: 10 of 38 patients (26.3%) had high Andro levels in the 2 years prior to ultrasonography, while Claahsen-van der Grinten et al reported that 19 of the 41 patients (46.3%) had Andro levels above the normal limit.…”

“…Claahsen-van der Grinten et al [8] did not find lesions in 15 patients younger than 10 years of age. We could not compare our data to the other patients because there was no further information on their clinical form or genotypes.…”

“…They were first reported in adults [1]; however, its occurrence in children was also demonstrated [3-8]. Although there is no description of malignancy for this type of tumors, they can cause infertility due to the compression of seminiferous tubules [1].…”

“…Some authors found an increased TART prevalence in patients that were at pubertal or postpubertal periods, which can be explained by the presence of LH receptors in these tumors that would be stimulated by higher LH concentrations after puberty onset [2, 8]. Other authors have reported that TART development could be related to the degree of 21-hydroxylase enzyme impairment, therefore it would depend on the CYP21A2 genotype [17].…”