Testicular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia

• Published in: European journal of medical genetics Vol. 60; no. 9; pp. 489 - 493
• Main Authors: Ozisik, Hatice, Yurekli, Banu Sarer, Simsir, Ilgin Yildirim, Altun, Ilker, Soyaltin, Utku, Guler, Ezgi, Onay, Huseyin, Sarsik, Banu, Saygili, Fusun
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.09.2017
• Subjects: Adrenal Hyperplasia, Congenital - complications; Adrenal Hyperplasia, Congenital - diagnosis; Adrenal Hyperplasia, Congenital - drug therapy; Adrenal Hyperplasia, Congenital - surgery; Adrenal Rest Tumor - complications; Adrenal Rest Tumor - diagnosis; Adrenal Rest Tumor - drug therapy; Adrenal Rest Tumor - surgery; Adult; Congenital adrenal hyperplasia; Humans; Male; Testicular adrenal rest tumor; Testicular Neoplasms - complications; Testicular Neoplasms - diagnosis; Testicular Neoplasms - drug therapy; Testicular Neoplasms - surgery; Testicular adrenal rest tumor; Congenital adrenal hyperplasia
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2017.06.009

Congenital adrenal hyperplasia is one of the most common autosomal recessive genetic disorders. Testicular adrenal tumors are significant complications of congenital adrenal hyperplasia. We would like to present two patients of testicular adrenal rest tumors. Patient 1 24 year-old male, he was diagnosed with congenital adrenal hyperplasia at the age of 8 due to precocious puberty. He received hydro-cortisone treatment until the age of 18. Testicular mass had been detected and right radical orchiectomy had been applied 6 months ago and reported as testicular adrenal rest tumor. In scrotal ultrasound, a mixed type mass lesion (6 × 4x3 cm) covering a large part of left testis was observed. The imaging findings were consistent with adrenal rest tumor. The patient took adrenocorticotropic hormone supressive therapy with dexamethasone 0.75 mg once a day. Patient 2, 38 year-old male, he had been followed-up as adrenal insufficiency for 35 years. He underwent right orchiectomy operation due to the testicular mass in 2010 and the pathological examination revealed Leydig cell tumor. In scrotal ultrasound, small multifocal lesions were detected on the left testis and resection was done. It was reported as testicular adrenal rest tumor. He is being followed-up with glucocorticoid treatment according to androgen and adrenocorticotropic hormone levels. Early diagnosis of testicular adrenal rest tumor is significant in preventing irreversible testicular damage and infertility. In the differential diagnosis, we should keep in mind that testicular adrenal rest tumor can mimic other testicular tumors such as primary germ cell tumors.