Congenital Adrenal Hyperplasia with 21-hydroxylase Deficiencies in Twins.
- Author:
Young Don KIM
;
Jeong Hwa CHOI
;
Jae Hong PARK
;
Hee Ju PARK
;
Seong Suk JEON
- Publication Type:Case Report
- MeSH:
17-alpha-Hydroxyprogesterone;
Adrenal Hyperplasia, Congenital*;
Desoxycorticosterone Acetate;
Disorders of Sex Development;
Humans;
Hydrocortisone;
Hyperkalemia;
Hyperpigmentation;
Hyponatremia;
Infant;
Progesterone;
Steroid 21-Hydroxylase*;
Twins*;
Weight Gain
- From:Journal of the Korean Pediatric Society
1994;37(10):1469-1473
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Congenital adrenal hyperplasia is inherited disorder of adrenal steroidogenesis. 21-hydroxylase deficiency is the most commone enzymatic defect and is divided into classic and late-onset or nonclassic forms. Both classic non-classic 21-hydrozylase deficiencies are inherited in a recessive manner as allelic variants. But it is rare that happened in twin infants. Chief complaints of affected twins in our case were ambiguous genitalia, hyperpigmentation and dehydrations. They were revealed into hyponatremia, hyperkalemia and increased amount of serum progesterone, 17-hydroxyprogesterone and urinary 17-ketosteroid excretion and were administered with DOCA, 9alpha-fluorohydrocortisone, hydrocortisone to control the electrolyte imbalance. And now, both of them are going to normal ratio of weight gain and body growth.
