J Korean Pediatr Soc.  1994 Oct;37(10):1469-1473.

Congenital Adrenal Hyperplasia with 21-hydroxylase Deficiencies in Twins

• Kim YD
• Choi JH
• Park JH
• Park HJ
• Jeon SS

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.

MeSH Terms

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
17-alpha-Hydroxyprogesterone
Hydrocortisone
Progesterone
Steroid 21-Hydroxylase