A Case of Primary Amenorrhea due to 17 -Hydroxylase Deficiency.
- Author:
Hong Seub RIM
1
;
Seon Hwa LEE
;
Jung Min HONG
;
Jae Hyun NAM
;
Hee Back PARK
;
Chul Woo AN
;
Do Min KI
;
Sung Kil LIM
;
Young Duk SONG
;
Hyun Chul LEE
;
Kap Bum HUH
;
Inn Soo KANG
Author Information
1. Department of Internal medicine, Inchon Christian Hospital, Inchon, Korea.
- Publication Type:Case Report
- Keywords:
17 alpha hydroxylase deficiency;
Congenital adrenal hyperplasia;
Primary amenorrhea
- MeSH:
Adrenal Hyperplasia, Congenital;
Alkalosis;
Amenorrhea*;
Androgens;
Corticosterone;
Desoxycorticosterone;
Diagnosis;
Female;
Humans;
Hydrocortisone;
Hypertension;
Sex Characteristics;
Young Adult
- From:Journal of Korean Society of Endocrinology
2001;16(1):130-133
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
17 -Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia that is characterized by primary amenorrhea, absence of secondary sex characteristics, hypertension, and a hypokalemic alkalosis that has resulted resulting from increased production of deoxycorticosterone and corticosterone by the adrenal. The diagnosis of this enzyme deficiency can be recognized by the increasing serum concentrations of steroid precursors, DOC and corticosterone and the decreasing concentrations of cortisol, and adrenal androgens. We diagnosed this in a 19 year old female who presented with primary amenorrhea. We report this case with a review of the literatures.
