<unk>  was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following publication of a case report.<unk>  is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene CYP17A1, which encodes for the enzyme<unk>  alpha-hydroxylase and<unk> ,20-lyase.<unk>  is transmitted in an autosomal recessive pattern. Mineralocorticoid excess and lack of androgens are two main features in this disease. Mutations in the CYP17A1 gene cause<unk> . This gene is located on chromosome 10.<unk>  is a rare disease and since 2010, only 130 individuals with severe, confirmed disease had been documented. Worldwide incidence of<unk>  is low, especially compared with other forms of CAH. New cases of<unk> -hydroxylase deficiency continue to be reported. The most potent risk factor in the development of<unk>  is the presence of family history of<unk>  alpha-hydroxylase. Symptoms of<unk>  include delayed puberty and primary amenorrhea. Patients with<unk>  usually appear normal. Physical examination of patients with<unk>  is usually remarkable for gynaecomastia, hypertension, and sexual infantilism. Laboratory findings consistent with the diagnosis of<unk>  include increased deoxycorticosterone and corticosterone with low cortisol. The mainstay of therapy for<unk>  is glucocorticoid therapy. Spironolactone and estrogen also may be used. Affected 46,XY patients require gonadectomy to prevent malignant degeneration of testes. The reconstruction surgery for ambiguous genitalia in genetically male patients may be considered.
17 alpha-hydroxylase deficiency
11β-hydroxylase deficiency
21-hydroxylase deficiency
17-beta-hydroxysteroid dehydrogenase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
5-alpha-reductase deficiency
18-Hydroxylase deficiency
21-Hydroxylase Deficiency