<unk> -hydroxylase deficiency is the most common type of congenital adrenal hyperplasia. Almost 95% of congenital adrenal hyperplasia patients is<unk> -hydroxylase deficient. Gene mutations are the cause of these diseases. Mutations in the CYP21A2 gene cause this disorder. CYP21A2 gene provides instructions for making an enzyme called steroid<unk> -hydroxylase, which enables the adrenal glands to convert cholesterol into other steroid hormones. Patients with <unk> -hydroxylase deficiency, the adrenal glands typically don't produce enough cortisol. Deficiency of<unk> -hydroxylase can interfere with normal growth and development in children and adults. Usual signs and symptoms include girls' external appearance change, boys may have 3-4 years early virilizing characteristics than the normal, even adrenal crisis in the newborn. Serum and urinary hormone level can help the diagnosis. Steroid therapy and surgery to correct the appearance and function of the genitals are the main treatments. Many patients with<unk> -hydroxylase deficiency can lead normal lives with appropriate treatment. Infants with untreated adrenal crisis may die within several weeks after birth.
21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
17-beta-hydroxysteroid dehydrogenase deficiency
18-Hydroxylase deficiency
21-Hydroxylase Deficiency
5-alpha-reductase deficiency