Класична вроджена гіперплазія надниркових залоз, зумовлена дефіцитом 21-гідроксилази, солевтратна форма
ORPHA:315306· ICD-10 E25.0· Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Визначення(English summary)
A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal