<unk>  is the second most common type of congenital adrenal hyperplasia. This disease results from a defect in CYP11B1 on chromosome 8. CYP11B1 gene encodes an enzyme called<unk> -hydroxylase in the path of steroid biosynthesis. Lack of<unk> -hydroxylase enzyme in different amounts results in accumulation of 11-deoxycortisol, and decrease amounts of cortisol and 11-deoxycorticosterone.  The most potent risk factor in the development of<unk>  is the presence of family history of<unk> . Symptoms of<unk>  include female patients with ambiguous genitalia, clitoromegaly, labial fusion, hirsutism, menstrual irregularities, aggressive behavior; male patients present with increased penile size in newborns, acne. Children who are not diagnosed at birth, may present with premature adrenarche, adult body odor, axillary and pubic hair development, faster growth and bone age in premature adrenarche. Laboratory findings consistent with the diagnosis of<unk>  include elevated 17-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids, and decreased renin. Treatment for<unk>  in children is administration of glucocorticoids. The treatment option in women is spironolactone. Girls with ambiguous genitalia mostly undergo reconstructive surgery such as clitoroplasty and vaginoplasty.
11β-hydroxylase deficiency
21-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
17-beta-hydroxysteroid dehydrogenase deficiency
18-Hydroxylase deficiency
5-alpha-reductase deficiency
21-Hydroxylase Deficiency