17α-hydroxylase Deficiency Mimicking Hyperaldosteronism by Aldosterone-producing Adrenal Adenoma.
10.3904/kjm.2016.91.2.191
- Author:
Yun Kyung CHO
1
;
Hyeseon OH
;
Sun Myoung KANG
;
Sujong AN
;
Jin Young HUH
;
Ji Hyang LEE
;
Woo Je LEE
Author Information
1. Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. lwjatlas@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
17-alpha-hydroxylase deficiency;
Adrenocortical adenoma;
Adrenal hyperplasia, Congenital;
Hyperaldosteronism
- MeSH:
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
- From:Korean Journal of Medicine
2016;91(2):191-196
- CountryRepublic of Korea
- Language:Korean
-
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.
