An adrenal rest tumour in the perirenal region in a patient with congenital adrenal hyperplasia due to congenital 3β-hydroxysteroid dehydrogenase deficiency

Abstract

Background: In contrast to the high incidence of testicular adrenal rest tumours (TART) in adult male patients with congenital adrenal hyperplasia (CAH), ovarian adrenal rest tumours in female CAH patients are very rare and other locations of adrenal rest tumours have never been reported. Here, we report on an adult patient with CAH due to 3b-hydroxysteroid dehydrogenase (HSD) deficiency with bilateral TART and additionally a large perirenal adrenal rest tumour. Case report: The patient was known with CAH due to 3b-HSD deficiency and treated with hydrocortisone and fludrocortisone since the neonatal period. In puberty, there was lack of compliance with consequently high POMC concentrations. At the age of 16 years, bilateral TART were detected by scrotal ultrasound. Intensifying glucocorticoid medication did not result in decrease in POMC concentrations and shrinkage of size of the tumours. At the age of 23 years, abdominal ultrasound was performed because of abdominal complaints, showing a round inhomogeneous structure with a diameter of 4 cm near the left renal hilus. A computer tomography scan showed a multinodular lesion in the retroperitoneal region beside the left kidney. Histological investigation after removal of the tumour showed sheets of large polygonal cells with abundant eosinophilic cytoplasm, separated by dense fibrous tissue strands. The histological and immunohistochemical profile resulted in a diagnosis of an adrenal rest tumour. Conclusion: In adult CAH patients, ectopic adrenal rest tumours can be present outside the testicular region. Further investigations are necessary to determine whether regularly screening for these tumours is useful.

Ovarian Adrenal Rest Tumor in a Congenital Adrenal Hyperplasia Patient with Adrenocorticotropin Hypersecretion following Adrenalectomy

“…Kovacs et al [28] demonstrated the presence of true corticotroph hyperplasia preceding adenoma formation in a patient with well-defined Nelson’s syndrome. The same mechanism may account for the high ACTH levels and suspected pituitary microadenoma in our patient and in other CAH patients who underwent bilateral adrenalectomy, followed by enhanced ACTH secretion that was not suppressed by intensified glucocorticoid medication [29], and developed pituitary adenoma [30]. …”

Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene

“…Bilateral TART associated with large adrenal rest tumor located in the perirenal region was reported in an adult CAH patient with known HSD3β2 mutation (5). However, TART development in infants/children has not been reported previously.…”

Testicular adrenal rest tumor (TART) and ovarian adrenal rest tumor (OART) in patients with congenital adrenal hyperplasia

“…Przed tą separacją komórki kory nadnerczy mogą przylgnąć do gonad i dalej wędrować razem z jądrami. Dlatego też resztki tkanki nadnerczowej można wykryć na drodze normalnego zstępowania jądra [3,10,11,19,[21][22][23][24][25][26].…”