Korean J Med.
2002 May;62(5):543-547.
A case of primary amenorrhea due to 17alpha- hydroxylase deficiency
- Affiliations
-
- 1Department of Internal Medicine, Younsei Univerity college of Medicine, Seoul, Korea. lsk@yumc.or.kr
- 2Department of Internal Medicine, Ilsan Hospital, National Health Insurance Medical Center, Goyang, Korea.
- 3Department of Obstetrics and Gynecology, Samgsung Cheil Hospital & Women's Health care center, Sungkyunkwan University School of Medicine, Seoul, Korea.
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.
MeSH Terms
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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
Adrenocorticotropic Hormone
Aldosterone
Corticosterone
Dexamethasone
Estrogens
Follicle Stimulating Hormone
Hydrocortisone
Progesterone
Testosterone
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