Background: Gonads containing adrenal rests may enlarge in response to chronic overstimulation by ACTH in diseases with ACTH hypersecretion such as poorly controlled congenital adrenal hyperplasia (CAH), Addisons disease and Nelsons syndrome. Testicular adrenal rest tumors (TART) are present in childhood in CAH patients and frequency in adults may be up to 5095%. Ovarian adrenal rest tumors (ART) are less frequently detected. TART is decribed less in patients other than CAH.
Objective and Hypotheses: To investigate the presence of ART in patients with primary adrenal insufficiency excluding CAH.
Method: Twenty-four patients (9F, 15M); ages between 0.5 and 18.3 years (mean±S.D.; 8.6±4.5, median 7.5 years) at the time of evaluation, were included. ACTH resistance was the diagnosis of 23 patients (two of them were Allgrove syndrome). The other patient had autoimmune Addisons disease. Frequency of consanguinity was 75%. Mean duration of follow-up was 5.7±4.1 years (median: 4.9 years, range: 0.1718.3). Boys were screened by scrotal ultrasonography (US) and girls by suprapubic pelvic US.
Results: One of the boys had bilateral TART (6.7%). No ovarian ART was detected in girls. The boy who had TART, was diagnosed as ACTH resistance at age 2 years, and was receiving hydrocortisone replacement therapy. He was 6.5 years old when US performed, at this time ACTH level was>1250 pg/ml. Totally four adrenal rest tissues were detected, in right testes one (3.5×3.5 mm), in left three (largest one 9.5×7 mm). Additionally testicular microlithiasis was detected in four patients (three of them were siblings) (n=4, 26.7%).
Conclusion: In patients with primary adrenal insufficiency overstimulation by ACTH may predispose to TART. Additionally testicular microlithiasis has been found at high frequency similar to CAH patients. Especially in patients with primary adrenal insufficiency who have ACTH resistance accompanied with high ACTH levels, we recommend that the patients should be followed for ART by periodic ultrasonographic evaluation.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology