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: Objective To investigate fertility in a sample of Tunisian patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Design Tunisian bicentric prospective study. Setting Endocrinology department, Hedi Chaker Hospital, Sfax, Tunisia and Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Mahdia, Tunisia. Materials and methods Twenty-six patients (11 M; 15 F), aged 16.5–48 years, were enrolled. Clinical, biological, hormonal and ultrasound examinations were performed to assess fertility. Results Eighteen had the classical form and eight the non classic. One patient had palpable testicular nodule. Inhibin B level was decreased in four male patients. Semen analysis showed abnormalities in four of 10 patients. Testicular adrenal rest tumors (TARTs) were detected in 6/11 patients. Menstrual disorders and hirsutism were noted in four and nine female patients, respectively. Six patients showed polycystic ovary syndrome. Anti-Mullerian hormone level was reduced in four female patients. Among four female patients who wished to get pregnant, two of them achieved one successful pregnancy, miscarriage occurred in one patient and the remaining patient was sterile. Fertility issues in our patients appeared to be related to poor hormonal control and a result of noncompliance with medication schedules. Conclusion Fertility in male and female patients with CAH is reduced. Early and adequate glucocorticoid therapy along with good compliance, careful monitoring of androgen levels and continuous psychological management could contribute to improved fertility rates in this population, even among those with the severe variant.
    Middle East Fertility Society Journal 06/2014; 19(2):89–95. DOI:10.1016/j.mefs.2013.05.006
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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: 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