Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor

Abstract

Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, sexual infantilism in women, and pseudohermaphroditism in men. hypertension, and sexual infantilism in women and pseudohermaphroditism in men. In rare cases, a huge adrenal gland tumor can present as a clinical manifestation in untreated CAH. Adrenal cortical adenoma is an even more rare phenotype in CAH with 17α-hydroxylase/17,20-lyase deficiency. A 36-year-old female presented with hypertension and abdominal pain caused by a huge adrenal mass. Due to mass size and symptoms, left adrenalectomy was performed. After adrenalectomy, blood pressure remained high. Based on hormonal and genetic evaluation, the patient was diagnosed as CAH with 17α-hydroxylase/17,20-lyase deficiency. The possibility of a tumorous change in the adrenal gland due to untreated CAH should be considered. It is important that untreated CAH not be misdiagnosed as primary adrenal tumor as these conditions require different treatments. Adequate suppression of adrenocorticotropic hormone (ACTH) in CAH is also important to treat and to prevent the tumorous changes in the adrenal gland. Herein, we report a case of untreated CAH with 17α-hydroxylase/17,20-lyase deficiency presenting with large adrenal cortical adenoma and discuss the progression of adrenal gland hyperplasia due to inappropriate suppression of ACTH secretion.

Keywords: Adrenal glands; Adrenal hyperplasia, congenital; Adrenocortical adenoma.

Fig. 1. (A) Computed tomography (CT) scan of the large, 7.6-cm, hemorrhagic mass in the left adrenal gland (white arrows). (B) Fluorodeoxyglucose (FDG) uptake (black arrow) in the solid portion of the mass in ¹⁸F-FDG-positron emission tomography-CT.

Fig. 2. Gross finding of adrenal cortical adenoma with degenerative cystic change.

Fig. 3. Computed tomography scan of the right adrenal gland after adrenalectomy (white arrows). (A) Hyperplasia in right adrenal gland immediately after left adrenalectomy. (B) Progression of hyperplasia in right adrenal gland after 3-year follow-up due to poor compliance.