CASE 11976 Published on 15.07.2014

Testicular adrenal rest tumour in a patient with 11 hydroxilase deficiency

Section

Paediatric radiology

Case Type

Clinical Cases

Authors

Gonca Koc, Selim Doganay, Sureyya B. Gorkem, M. Sait Dogan, Abdulhakim Coskun

Erciyes University School of Medicine,
Pediatric Radiology;
Melikgazi 38090 Kayseri;
Email:ggulkoc@gmail.com
Patient

15 years, male

Categories
Area of Interest Paediatric ; Imaging Technique Ultrasound
Clinical History
A 15-year-old male patient was diagnosed with 11-hydroxylase deficiency at the age of 2 years and treated with hydrocortisone ever since. On his last visit the physical examination revealed increased bilateral testes volume (25 ml) with normal palpation and the patient was referred for testicular ultrasound (US).
Imaging Findings
US of the testes showed bilateral lobulated, slightly heterogeneous, hypo-isoechoic solid masses around both mediastinum testes with the size of 18x23x32 mm and 12x14x21 mm for the right and left testes, respectively (Fig. 1). On colour Doppler US, the lesions had increased vascularity (Fig. 2). Magnetic resonance imaging (MRI) performed for further characterization revealed that the lesions were hyperintense on T1-weighted (W), hypointense on T2-W images relative to testes and vividly enhancing after gadolinium-based contrast material injection (Fig. 3). Since an increased level of blood adrenocorticotropic hormone (ACTH) with normal levels of tumour markers including alfa fetoprotein and beta HCG were detected, diagnosis of bilateral testicular adrenal rest tumour (TART) was made without biopsy. Glucocorticoid replacement therapy with a higher dose was maintained and 6-month follow-up ultrasound and MRI evaluation of bilateral testes showed the lesions to be of the same size and features.
Discussion
Although the exact aetiology has not been elucidated, TART is believed to grow on the adrenal rest tissue embedded within the testicles due to increased ACTH levels [1]. It is usually detected in patients with congenital adrenal hyperplasia (CAH) and rarely with Cushing and Nelson syndromes [2, 3]. 21-hydroxylase deficiency has been reported to be the most frequent association [4]. The prevalence varies between 0-94%, depending on the investigation method [5].
Patients may present with either tender testicular enlargement or palpable mass. Conversely, they may incidentally be encountered during the routine follow-ups of previously diagnosed CAH.
Radiological imaging plays an important role in the diagnosis and follow-up of TART. US, as an easily accessible method should be the first choice. The use of MRI is controversial: It has been reported to be equally useful compared to US for the lesion detection, while Wayde et al commented on the better delineation of the borders of TART with US [6-9]. Conversely, Fitoz et al reported MRI to be more sensitive for lesion detection [10].
On US, TART located within the rete testis adjacent to the mediastinum, considered to be a typical location, is up to 80% bilateral, and mostly hypoechoic. Doppler US may reveal the lesions with either intra-perilesional flow or no flow [11]. Although TARTs in our patient have not increased in size in 6-month follow-up, further studies with larger patient groups should be done to investigate whether increased vascularity is related with the growth potential. On MRI, lesions are usually hypointense on T2, hyperintense on T1-weighted images and enhance homogeneously following contrast administration [10].
In the differential diagnosis, testicular tumours including leydig cell tumour should be kept in mind. Emergence of TART, usually in patients followed-up for CAH, bilaterality, typical localization and possible response to corticosteroid therapy such as decrease in size are the features that facilitates the diagnosis without biopsy [12]. However, atypical features including asymmetric involvement of testes, localization of the lesion rather than adjacent to mediastinum may cause a diagnostic challenge and patients to undergo orchiectomy to establish accurate diagnosis [13].
Longstanding TARTs may cause obstructive azoospermia and infertility [14]. Intensive corticosteroid therapy is the first step treatment option, as testicular dysfunction and enlargement of the lesion persists, testis-sparing surgery may be applied.
In conclusion, in patients followed up for CAH, TART should be considered for testicular mass lesions to avoid unnecessary surgeries.
Differential Diagnosis List
Testicular adrenal rest tumor in a patient with congenital adrenal hyperplasia
Leydig cell tumour
Germ cell tumour
Final Diagnosis
Testicular adrenal rest tumor in a patient with congenital adrenal hyperplasia
Case information
URL: https://www.eurorad.org/case/11976
DOI: 10.1594/EURORAD/CASE.11976
ISSN: 1563-4086