ABSTRACT
21-hydroxylase deficiency [21-OHD] caused congenital adrenal hyperplasia [CAH] is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol [CO] synthesis in the adrenal glands. Testicular adrenal rest tumors [TARTs] are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The patient showed physical signs of precocious puberty. The levels of blood adrenocorticotropic hormone [ACTH], urinary 17-ketone steroids [17-KS], dehydroepiandrosterone sulfate [DHEA-S], and serum progesterone [PRGE] were elevated, whereas those of follicle-stimulating hormone [FSH], luteinizing hormone [LH], and CO were reduced. Computed tomography [CT] of the adrenal glands and magnetic resonance imaging [MRI] of the testes showed a soft tissue density [more pronounced on the right side] and an irregularly swollen mass [more pronounced on the left side], respectively. Pathological examination of a specimen of the mass indicated polygonal/circular eosinophilic cytoplasm, cord-like arrangement of interstitial cells, and lipid pigment in the cytoplasm. Immunohistochemistry results precluded a diagnosis of Leydig cell tumors. DNA sequencing revealed a hackneyed homozygous mutation, I2g, on intron 2 of the CYP21A2 gene. The patient's symptoms improved after a three-month of dexamethasone therapy. Recent radiographic data showed reduced hyperplastic adrenal nodules and testicular tumors. A diagnosis of TART should be considered and prioritized in CAH patients with testicular tumors. Replacement therapy using a sufficient amount of dexamethasone in this case helps combat TART