Testicular adrenal rest tumours in congenital adrenal hyperplasia.
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.
SourceAvailable from: Jorge Elias Junior[Show abstract] [Hide abstract]
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.Arquivos Brasileiros de Endocrinologia & Metabologia 10/2014; 58(7):701-8. DOI:10.1590/0004-2730000003371 · 0.68 Impact Factor
[Show abstract] [Hide abstract]
ABSTRACT: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive inherited disorders caused by defective steroidogenesis. Steroid 21-hydroxylase deficiency (21OHD) is its most prevalent form, accounting for over 90% of all cases. Clinically classic 21OHD is characterised by glucocorticoid deficiency and adrenal androgen excess with (salt wasting form) or without (simple virilising form) additional mineralocorticoid deficiency. Life-saving glucocorticoid substitution therapy has been available since the 1950s and enables long-term survival, and potentially, a good quality of life. However, care of adult patients with classic congenital adrenal hyperplasia is challenging for two main reasons: firstly, there is no glucocorticoid preparation available mimicking circadian cortisol release and adaptation to stress and secondly, management of adult patients is still in its infancy. There is no evidence-based treatment and experienced centres, taking care of larger patient cohorts, are only emerging. In this article we aim to guide physicians on the treatment and monitoring of adult patients with 21OHD, based on the clinical studies available and our own clinical experience.Best Practice & Research: Clinical Endocrinology & Metabolism 11/2014; DOI:10.1016/j.beem.2014.11.002 · 4.91 Impact Factor
[Show abstract] [Hide abstract]
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.Endocrine Practice 08/2014; 1(-1):1-15. DOI:10.4158/EP14188.CR · 2.59 Impact Factor