# Uncommon adrenal rest tumors and massive adrenal enlargement in adult with congenital adrenal hyperplasia mimicking metastasis from pleomorphic sarcoma

## TL;DR

A rare case of adrenal tumors in a man with untreated adrenal hyperplasia was mistaken for cancer spread.

## Contribution

Reports a rare case of adrenal rest tumors in non-gonadal sites in a CAH patient, highlighting diagnostic challenges.

## Key findings

- Massive adrenal enlargement and ectopic adrenal rest tumors were found in a CAH patient.
- The tumors mimicked metastasis from a prior sarcoma, leading to diagnostic confusion.
- Undertreated CAH can lead to rare adrenal complications outside the gonads.

## Abstract

Congenital adrenal hyperplasia (CAH) encompassed a bunch of autosomal recessive disorders characterized by impaired cortisol levels due to an enzymatic deficiency in steroid synthesis. In adult male patients with CAH, a frequent complication related to poor disease control is the development of ectopic adrenocortical tissue in the testes, named testicular adrenal rest tumors (TART). Conversely, ovarian adrenal rest tumors (OART) in females are extremely rare and adrenal rests in sites other than gonads are so uncommon to have been described only few times in literature.

We report a case of a male patient with untreated CAH and oncologic history of pleomorphic sarcoma who presented with massive bilateral adrenal enlargement and adrenal rest tumors in peri-lumbar and peri-cecal sites, which mimicked metastasis from sarcoma.

The development of massive adrenal enlargement and ectopic adrenal rest tumors in sites other than gonads, even if very uncommon, should be suspected in patients with CAH and prolonged periods of undertreatment.