ESPE Abstracts

Testicular adrenal rest tumors (TARTs) may develop in some patients with congenital adrenal hyperplasia (CAH), probably from overstimulation of adrenocorticotrophic hormone (ACTH) to remnants of intra-testicular adrenal tissue. TARTs can lead to structural testicular damage and infertility. Although rare, they may occur when CAH patients are non-compliant with glucocorticoid therapy. Due to their deep-sited location, usually only TARTs of more than 2 cm are palpable, hence, they can be easily missed on physical examination. Ultrasound testes is reasonably effective in detecting TARTs. However, routine screening for TARTs among these patients is not the usual practice.

Methods: In a retrospective design, we recruited 52 patients, below 30 years of age, who were diagnosed with CAH at King Abdullah Specialized Children’s Hospital (KASCH), Riyadh, Saudi Arabia (January 2005 and December 2019). Patients were evaluated for the development of TARTs by physical examination followed by ultrasound testis as a screening method for TART. Then, TART patients underwent further hormonal evaluation besides routine investigations for CAH.

Results: Fifty-two CAH patients, aged 1-30 years (mea n = 18 years), were seen and evaluated for the development of TARTs between January 2005 and December 2019, 13% (n = 7/52) patients were found to have TART on US testes. The diagnosis of TART was not suggested by physical examination in any of these patients. They all were screened early in puberty at a mean age of 9.5 years. All patients have had bilateral TART in the US. Upon reviewing their steroid doses and compliance with treatment, all patients were supposed to be on appropriate doses of hydrocortisone tablets (12-15 mg\m2\day) prior to screening. However, all reported poor compliance with steroids that was supported by a high ACTH level during follow up. None of them was on a more potent steroid therapy prior to diagnosis of TART. Almost sixty percent (n = 4/7 of our patients) showed regression in TARTs in response to high-dose steroids, however, 40% (n = 3/7 patients) were followed closely to ensure compliance with intensified glucocorticoid treatment that resulted in a decrease in ACTH levels, but without significant regression in their TARTs. None of the patients have done a testicular biopsy or required surgical treatment.

Conclusion: Early diagnosis and treatment of TART is important for the preservation of gonadal function in children with CAH. To prevent a delay in recognition of TART and consequent infertility, we recommend an annual ultrasound screening of TART to start from early puberty in male CAH patients.