Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders, CAH is caused by a mutation in the CYP21A2 gene that leads to a deficiency of 21-hydroxylase (CYP21), due to CYP21A2 gene mutations. Testicular adrenal rest tumors (T-ARTs) is a rare kind of benign tumor in the testis, which occurs mainly secondary to congenital adrenal hyperplasia (CAH). We report a rare case of bilateral TART in a patient with CAH whose diagnosis was revealed by precocious puberty.

Case report: The 7-year-old patient was referred to early puberty. Clinical examination revealed advanced stature, and Tanner stage G5P5. Additionally, a heterogeneous mass in the left testicle was identified. The bone age was assessed as 17 years. Cortisol and ACTH levels were 3.02 µg/dl and 365.0 ng/l, respectively. Gonadotropin hormones (FSHus and LH) were suppressed, while testosterone was elevated at 9,74 ng/dl. Cytogenetic analysis revealed a 46XY karyotype. Testicular ultrasound showed increased size with heterogeneous echostructure, suggestive of intratesticular adrenal inclusions. A diagnosis of congenital adrenal hyperplasia complicated by early puberty with testicular adrenal inclusions was established. Treatment involved progressive administration of hydrocortisone up to 40 mg/day, followed by monitoring with a 17OHP level of 775.9 nmol/l. Subsequent testicular ultrasound revealed multiple nodular formations, measuring 32×20×38.6 mm on the right and 40×24.4×54 mm on the left, likely related to an adrenal testicular inclusion. The patient was then treated with dexamethasone at a dose of 1 mg/day.

Discussion: TARTs are a complication in males affected by congenital adrenal hyperplasia (CAH), boasting an average prevalence of 40%. They stand out as the primary cause of infertility among male CAH patients. TARTs manifest during childhood, their prevalence surges during puberty and adulthood. Distinguishing between TARTs and Leydig cell tumors proves challenging. TART occurrence in individuals without CAH is exceedingly rare. TARTs exhibit characteristics of both adrenal and testicular origins, suggesting a pluripotent cell type as their source. While ACTH emerges as a pivotal stimulating factor in TART development among CAH patients, additional unidentified factors contribute to this process.

Conclusion: Patients diagnosed with congenital adrenal hyperplasia should undergo routine scrotal ultrasound examinations from childhood. If testicular nodules are detected, the most likely diagnosis is TART, especially in prepubertal boys with bilateral involvement, poor compliance to replacement therapy, and suggestive echo-Doppler appearance. It is crucial to optimize replacement therapy and conduct regular ultrasound follow-ups to observe the regression of anomalies, confirming the diagnosis.