Testicular adrenal rest tumor (TART)
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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