Endocrine Abstracts

JOINT3461

Introduction: Testicular adrenal rest tumor (TART) is a rare type of benign tumor of the testis. However, TARTs have been described in rarer forms of congenital adrenal hyperplasia(CAH) such as CYP11B1, 3β-hydroxysteroid dehydrogenase type 2 deficiency (3βHSD2D) as it occurs in 21-hydroxylase deficiencydeficiency, although no clear association between hormonal control of all cells and the development of TART has been shown. TART may be missed on physical examination when it is deeply located and less than 2 cm in size. Ultrasound as a first-line examination method provides important information for the recognition of TART. Accurate and timely recognition of TART in cases of infertility or progression and deterioration is important, especially in the absence of adequate and continuous hormonal control.

Methods: Pediatric patients who were followed up in pediatric endocrine outpatient clinic between 2022 and 2024 with the diagnosis of adrenal insufficiency and screened for TART with routine testicular ultrasonography were included in the study. We included10 cases of TART with CAH (7 cases of 21-hydroxylase deficiency, 2 cases of 11β-hydroxylase deficiency, 1 case of 3βHSD2D-related TART). Virilization and under-masculinization were assessed using Prader staging and pubertal development sttaged according to the system of Tanner. Steroids higher than the target range supported by high ACTH levels during follow-up were classified as poor control.

Results: The age of the patients was 13.07 ± 3.68 years. 3 patients (30%) were well controlled. All patients had advanced bone age and 1 patient was receiving GnRH analog therapy due to precocious puberty. The youngest affected patient was 5 years old. 2 (20%) patients were of Syriac nationality and had no regular follow-up with poor control.2 patients were interpreted as REST in the first USG and were diagnosed as Leyding cell tumor (LCT) with biopsies performed due to clinical progression. One of the two patients had no genetic diagnosis but was considered to have 21-hydroxylase deficiency based on laboratory and clinical findings.

Conclusion: Early diagnosis and treatment of TART is important for the preservation of gonadal function in children with CAD. Timely detection of the disease is important to prevent irreversible gonadal dysfunction and infertility. Abnormal serum ACTH levels are not seen in some cases and are also seen in patients younger than 6 years of age, so we recommend screening with early US scanning. Rarely, it can be caused by LCT and should be kept in mind in this respect.