Background: Testicular adrenal rest tumours (TART) may develop in males with congenital adrenal hyperplasia (CAH), with a widely variable prevalence. Having no malignant features, there seems to be no need to remove them. However, these lesions may increase in size and number when exogenous hormone therapy is inadequate. Untreated, may lead to infertility and irreversible damage of the surrounding testicular tissue.
Case report: We present two cases, diagnosed with CAH at the age of 3 weeks due to total 21-hidroxylase deficiency. First case: 15 years boy, treated with glucocorticoids and salt supplementation until the age of 6, then interrupted by GP. In the last six months presented progressive enlargement of the scrotal bursae and was directed to surgery. The endocrinological evaluation diagnosed TART. Glucocorticoid therapy was again initiated, with significant hormonal and imagistic improvement. Second case: 10 years boy, received intermittent steroid supplementation (poor compliance). At the age of 8, the scrotal ultrasound revealed increased size of testes, with bilateral TART. Long-term evolution of adrenal hyperplasia with inconsistent and incomplete therapy resulted in early onset of central puberty. Given the elevated gonadotropins, advanced bone age and stature, the therapy with GnRH analogues was introduced with improvement.
Discussions and conclusions: The early diagnosis of TART and the implementation of appropriate treatment approaches are important for the protection of gonadal functions. TART may regress with administration of exogenous glucocorticoids, intensifying therapy being the first step in their management. The presence of TART in these two patients is significant, suggestive of suboptimal hormone replacement therapy. Untreated TART may expand and destroy the testicular parenchyma, resulting in infertility. A future system of regular follow-up and standards in therapeutic concepts is needed to guarantee an improved fertility and quality of life in patients with CAH.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology