Endocrinol Metab.  2015 Sep;30(3):408-413. 10.3803/EnM.2015.30.3.408.

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

• Lee SJ
• Song JE
• Hwang S
• Lee JY
• Park HS
• Han S
• Rhee Y

• KMID: 2407094
• DOI: http://doi.org/10.3803/EnM.2015.30.3.408

Abstract

Congenital adrenal hyperplasia (CAH) with 17alpha-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 17alpha-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 17alpha-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 17alpha-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.

Keyword

Adrenocortical adenoma; Adrenal hyperplasia, congenital; Adrenal glands

MeSH Terms

Abdominal Pain
Adrenal Glands
Adrenal Hyperplasia, Congenital*
Adrenalectomy
Adrenocortical Adenoma
Adrenocorticotropic Hormone
Adult
Amenorrhea
Blood Pressure
Disorders of Sex Development
Female
Humans
Hyperplasia
Hypertension
Male
Phenotype
Sexual Infantilism
Adrenocorticotropic Hormone

Figure

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  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.

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  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.

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