Congenital adrenal hyperplasia with testicular adrenal rest tumor (TART)
Presentation
Known case of congenital adrenal hyperplasia with poor compliance to the medical treatment.
Patient Data
According to the radiographic atlas of skeletal development of hand and wrist by Greulich and Pyle; approximate bone age is 17 years with a standard deviation of +/- 15.4 months. Elbow x-ray also shows almost complete closure of all the growth plates, consistent with approximate bone age of 17 years.
Testes are normal in size, shape and parenchymal echogenicity. An ill-defined/lobular hypoechoic eccentric lesion is seen along the mediastinum testis in either testis. No calcifications or significant internal vascularity is seen in these lesions.
Average size testes with homogeneous parenchymal signal intensity. A well-defined eccentric lesion with lobular outlines is seen adjacent to mediastinum testis in both testes. These testicular lesions are isointense (on T1) and hypointense (on T2 weighted images) to the remaining testicular parenchyma. No restricted diffusion is seen in these lesions. These lesions show avid enhancement (more than the normal testicular parenchyma) on post contrast images. Gross morphology of the epididymides is within normal limits.
Three years later
Bulky and homogeneously enhancing bilateral adrenal glands, with maintained morphology of the adrenal glands, consistent with the history of congenital adrenal hyperplasia. Morphology of the remaining abdominal viscerae is unremarkable.
Cuts through the scrotum demonstrate bilateral testicular enhancing lesions, consistent with the previous imaging findings of testicular adrenal rest tumors (TART).
Molecular genetic analysis report showing homozygous pathogenic variant in the CYP21A2 gene, consistent with congenital adrenal hyperplasia (CAH).
Case Discussion
History and genetic analysis consistent with congenital adrenal hyperplasia (CAH), known as adrenogenital syndrome in the past.
Bone age study showed increased bone age. Scrotal imaging findings are consistent with testicular adrenal rest tumor (TART). Both findings are consistent with the history of CAH.
Despite the extensive counseling (of the patient and family) and adjustment of the drug's dosages, laboratory investigations showed poor medical control. Hence, adrenal imaging (CT abdomen) was done for the evaluation of the adrenal glands which show classical imaging features of the adrenal hyperplasia. Scrotum was covered in that CT scan for the assessment of the testicular lesions on the referring physician's request which showed markedly enhancing lesions in both testes, consistent with the previous imaging findings of TART . Ultrasound (US) is usually the first imaging modality of choice (followed by the magnetic resonance imaging) in the evaluation as well as follow up of these testicular lesions and computed tomography (CT) is usually avoided due to radiation hazards in such radio-sensitive organs.
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