A case of primary amenorrhea due to 17alpha- hydroxylase deficiency.
- Author:
Sang Su CHUNG
1
;
Yumie RHEE
;
Dae Jung KIM
;
Sang Sun LIM
;
Young Duk SONG
;
Kyung Rae KIM
;
Hyun Chul LEE
;
Kap Bum HUH
;
In Soo KANG
;
Sung Kil LIM
Author Information
1. Department of Internal Medicine, Younsei Univerity college of Medicine, Seoul, Korea. lsk@yumc.or.kr
- Publication Type:Case Report
- Keywords:
17 Alpha hydroxylase deficiency;
Congenital adrenal hyperplasia;
Primary amenorrhea
- MeSH:
Adrenal Hyperplasia, Congenital;
Adrenocorticotropic Hormone;
Aldosterone;
Amenorrhea*;
Blood Pressure;
Corticosterone;
Dexamethasone;
Estrogens;
Female;
Feminization;
Follicle Stimulating Hormone;
Genotype;
Humans;
Hydrocortisone;
Hypertension;
Hypokalemia;
Plasma;
Progesterone;
Sexual Maturation;
Testosterone;
Young Adult
- From:Korean Journal of Medicine
2002;62(5):543-547
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The enzyme, 17 -hydroxylase, is necessary for both cortisol and estrogen synthesis. Deficiency of the hormone results in increased adrenocorticotrophic hormone (ACTH), follicle-stimulating hormone (FSH). Synthesis of progesterone, 11-deoxycorticosterone (DOC), corticosterone and aldosterone don't require the enzyme. The lack of estrogen results in primary amenorrhea and absent sexual maturation. The replacement of dexamethasone and estrogens has lowered the blood pressure and produced feminization. A 19-year-old female had 46,XX genotype and presented amonorrhea, absence of sexual characteristics, hypertension and hypokalemia. Endocrinologic studies demonstrated increased plasma progesterone, ACTH levels and low production of 17 -hydroxyprogesterone and testosterone. We report a rare case of 17 -hydroxylase deficency with a brief history and review of the literature.
