Adrenocortical incidentaloma with uncertain prognosis associated with an inadequately treated congenital adrenal hyperplasia.
Large adrenal tumors are rarely associated with adrenal enzymatic deficiency, except in 11-ss-hydroxylase insufficiency. These tumors are exceptionally malignant. We report here the case of a patient with a congenital 21-hydroxylase deficiency (compound heterozygote for two severe mutations in the CYP21A2 gene) untreated for 20 years. His evaluation at 36 years of age showed a four-centimeter mass in the left adrenal gland, with most characteristics suggestive of malignancy (CT and positron emission tomography [PET] scan). We performed a surgical resection that established the diagnosis of adrenocortical tumor of uncertain prognosis (Weiss's score: 3). Even though malignant tumors are unusual in adrenal deficiency, our observation shows the need for a replacement therapy during adulthood, with a regular CT scan follow up in order to diagnose early isolated adrenal adenoma and remove it in case of malignancy suspicion.
Chevalier
N
N
Service d'endocrinologie et médecine de la reproduction, CECOS, hôpital de l'Archet-1, 151 route de Saint-Antoine-de-Ginestière, Nice cedex 3, France.
Carrier
P
P
Piche
M
M
Chevallier
A
A
Wagner
K
K
Tardy
V
V
Benchimol
D
D
Fénichel
P
P
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000306:Adrenal Cortex Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000311:Adrenal Glands / Q000000981:diagnostic imaging / Q000473:pathology; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000315:Adrenalectomy; D000328:Adult; D003480:Cushing Syndrome / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D008297:Male; D049268:Positron-Emission Tomography; D011379:Prognosis; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D014057:Tomography, X-Ray Computed
D000305:Adrenal Cortex Hormones; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase