|
KMID : 0367419940370101469
|
|
Journal of Korean Pediatric Society
1994 Volume.37 No. 10 p.1469 ~ p.1473
|
|
|
Congenital Adrenal Hyperplasia with 21-hydroxylase Deficiencies in Twins
|
|
김영돈
최정화/박재홍/박희주/전성숙
|
|
|
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, 9α-fluorohydrocortisone, hydrocortisone to control the electrolyte imbalance. And now, both of them are going to normal ratio of weight gain and body growth.
|
|
|
KEYWORD
|
|
|
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|