Korean J Med.  2016 Oct;91(2):191-196. 10.3904/kjm.2016.91.2.191.

17α-hydroxylase Deficiency Mimicking Hyperaldosteronism by Aldosterone-producing Adrenal Adenoma

• Cho YK
• Oh H
• Kang SM
• An S
• Huh JY
• Lee JH
• Lee WJ

• KMID: 2357437
• DOI: http://doi.org/10.3904/kjm.2016.91.2.191

Abstract

17α-hydroxylase deficiency is a rare cause of congenital adrenal hyperplasia and is characterized by primary amenorrhea, delayed puberty and hypertension. Although 17α-hydroxylase deficiency mimics mineralocorticoid-induced hypertension, impaired sexual development can aid in the differential diagnosis of this disease. A 32-year-old woman, who had a history of testicular feminization syndrome, presented with hypertension. Her aldosterone level was elevated whereas plasma renin activity was reduced, and her computed tomography scan showed a left adrenal adenoma, which was thought to be an aldosterone producing adenoma. A left adrenalectomy was performed to treat hypertension; however, the condition did not improve. The hormonal tests revealed high levels of plasma progesterone, mineralocorticoid and adrenocorticotropic hormone, and low levels of 17a hydroxyprogesterone, cortisol and sex hormones. The patient was diagnosed with 17α-hydroxylase deficiency and commenced on prednisolone, which controlled hypertension. Here, we report a case of 17α-hydroxylase deficiency mimicking hyperaldosteronism via aldosterone-producing adrenal adenoma.

Keyword

17-alpha-hydroxylase deficiency; Adrenocortical adenoma; Adrenal hyperplasia, Congenital; Hyperaldosteronism

MeSH Terms

Adenoma*
Adrenal Hyperplasia, Congenital
Adrenalectomy
Adrenocortical Adenoma
Adrenocorticotropic Hormone
Adult
Aldosterone
Amenorrhea
Androgen-Insensitivity Syndrome
Diagnosis, Differential
Female
Gonadal Steroid Hormones
Humans
Hydrocortisone
Hyperaldosteronism*
Hypertension
Male
Plasma
Prednisolone
Progesterone
Puberty, Delayed
Renin
Sexual Development
Adrenocorticotropic Hormone
Aldosterone
Gonadal Steroid Hormones
Hydrocortisone
Prednisolone
Progesterone
Renin