Testicular adrenal rest tumours in congenital adrenal hyperplasia.

Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Centre, The Netherlands.
Best Practice & Research: Clinical Endocrinology & Metabolism (Impact Factor: 4.91). 05/2009; 23(2):209-20. DOI: 10.1016/j.beem.2008.09.007
Source: PubMed

ABSTRACT In adult patients with congenital adrenal hyperplasia (CAH) the presence of testicular adrenal rest tumours (TART) is an important cause of gonadal dysfunction and infertility. In the last decade several papers have focused on the origin and pathogenesis of these tumours. In this paper we review the embryological, histological, biochemical and clinical features of TART and discuss the treatment options. Furthermore, we propose a new five-stage classification of TART, based on sonographic, clinical and biochemical parameters, that may lead to a better follow up and treatment of patients with TART.

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    ABSTRACT: Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging.
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    ABSTRACT: Objective: In this paper, the etiology, differential diagnosis and therapy of testicular adrenal rest tumors was presented based on a patient presentation and an overview of the most recent literature concerning this subject.Methods: Retrospective analysis of the clinical and biochemical data of an 18-year old male patient diagnosed at the age of 2 weeks with the classic salt-wasting form of congenital adrenal hyperplasia that has been monitored in the Pediatric and Adolescent Out-Patient Department since the age of 4 years.Results: The results of adrenal hormone concentrations (17- OHP, 17 KS, pregnans) had been unsatisfactory, especially in last 5 years. Scrotal US detected TARTs bilaterally. After increasing the dose of hydrocortisone and introducing dexamethasone considerable regression of the tumors was noted.Conclusion: Lack of complete regression of the lesions is caused by fibrosis and is probably due to decreased sensitivity of ACTH and angiotensin II receptors in this tissue.
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