Presentation
Known case of congenital adrenal hyperplasia with mild scrotal pain. No urinary symptoms.
Patient Data
An eccentric lobulated hypoechoic lesion is seen adjacent to the mediastinum testis in either testicle. No significant internal vascularity is seen in these lesions on color Doppler ultrasound examination.
Findings: A well-defined eccentric lesion with lobular outlines is seen adjacent to the mediastinum testis of either testicle. These 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. Impression: Small, eccentric, T1 isointense, T2 hypointense, enhancing bilateral testicular lesions; in view of history of congenital adrenal hyperplasia, these lesions are consistent with stage 3 testicular adrenal rest tumor (TART).
According to the radiographic atlas of skeletal development of the hand and wrist by Greulich & Pyle; approximate bone age is 8 years with a standard deviation of +/- 11 months.
According to the radiographic atlas of skeletal development of the hand and wrist by Greulich & Pyle; approximate bone age is 17 years with a standard deviation of +/- 15 months.
Case Discussion
- The patient is a known case of congenital adrenal hyperplasia with poor medical compliance.
- Molecular genetic analysis of the CYP21A2 gene: homozygous mutation c.952C>T (p.Gln318X) in the CYP21A2 gene.
- CYP21 (21-hydroxylase) deficiency is responsible for congenital adrenal hyperplasia (CAH) in more than 90% of cases. Testicular adrenal rest tumor (TART) can be confused with malignant Leydig cell tumor (LCT) and the following features can aid in differentiating these tumors 1:
- > 80% of TART are bilateral whereas only 3% LCT are bilateral.
- 25-40% LCT have Reinke crystals, which are usually not seen in the TART.
- 10% LCT can undergo malignant degeneration which is never reported in TART.
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