Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Department of Endocrinology, Radboud University Nijmegen, Nymegen, Gelderland, Netherlands
European Journal of Endocrinology (Impact Factor: 3.69). 10/2007; 157(3):339-44. DOI: 10.1530/EJE-07-0201
Source: PubMed

ABSTRACT Testicular adrenal rest tumours (TART) are a well-known complication in adult male patients with congenital adrenal hyperplasia (CAH), with a reported prevalence of up to 94%. In adulthood, the tumours are associated with gonadal dysfunction most probably due to longstanding obstruction of the seminiferous tubules. The aim of our study was to determine the presence of TART and their influence on gonadal function in childhood.
Retrospective study.
Scrotal ultrasound was performed in 34 children with CAH due to 21-hydroxylase deficiency who were between 2 and 18 years old. FSH, LH, testosterone and inhibin B concentrations were measured in serum of 27 patients.
TART were detected by ultrasound in 8 out of 34 (24%) children. In two of them, bilateral tumours were found. All lesions were located in the rete testis. Seven patients had the salt-wasting type of CAH; one patient had the simple virilising type of CAH. Mean tumour size was 4.1 mm (range 2-8 mm). In none of the patients were the tumours palpable. Two children with TART were between 5 and 10 years old, the other six children were above 10 years old. In all children with TART, LH, FSH, testosterone and inhibin B levels were similar to the patients without TART.
TART can be found in CAH children before the age of 10 years. The absence of gonadal dysfunction in our group of children suggests that gonadal dysfunction as frequently reported in adult CAH patients with TART develops after childhood.


Available from: Hedi Claahsen - van der Grinten, Jun 03, 2015
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Testicular adrenal rest tumours (TARTs) are benign ACTH-dependent tumours that occur in males with congenital adrenal hyperplasia (CAH) and if left untreated can destroy testicular tissue. Corticosteroid suppressive treatment could result in the regression of these testicular tumours. We present a patient with bilateral large TARTs as a consequence of poor compliance to treatment and follow-up for his CAH, who consequently had to have bilateral orchidectomies and prosthesis replacement. TARTs are frequently seen in males with CAH, and can be misdiagnosed as primary testicular cancer.Patient compliance to treatment and follow-up are necessary to reduce the risk of testicular damage as a result of TARTs in patients with CAH.Boys with CAH should have periodic ultrasonographic screening from before adolescent age for early detection of TARTs.Regular monitoring of renin, 17-hydroxyprogesterone and androgens levels is required to assess corticosteroid suppressive treatment.Patients with CAH should be offered psychological support and information concerning CAH support groups.
    02/2015; 2015. DOI:10.1530/EDM-14-0080
  • [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
  • [Show abstract] [Hide abstract]
    ABSTRACT: The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For these reasons, treatment regimen reassessment is indicated during adolescence. Patients with non-classic congenital adrenal hyperplasia require reassessment regarding the need for glucocorticoid drug treatment. No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. Extensive patient education is key during transition from paediatric care to adult care and should include education of females with classic congenital adrenal hyperplasia regarding their genital anatomy and surgical history. Common issues for these patients include urinary incontinence, vaginal stenosis, clitoral pain, and cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include testicular adrenal rest tumours. Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed.
    12/2013; 1(4):341-352. DOI:10.1016/S2213-8587(13)70138-4