<unk>  is a rare disease due to congenital adrenal hyperplasia. It is characterized by impaired biosynthesis pathway of progestins, mineralocorticoids, glucocorticoids, and androgens. As a result of cortisol absence, corticotropin (ACTH) secretion increases and leads to produce<unk> -hydroxy-delta-5-steroids pregnenolone, 17-hydroxypregnenolone, and dehydroepiandrosterone (DHEA), also their sulfates. In peripheral tissues the conversion of DHEA sulfate (DHEAS) to testosterone, is responsible for virilization in females.<unk>  is caused by a mutation in the HSD3B2 gene. Symptoms of<unk>  may include symptoms of both cortisol and aldosterone deficiency such as feeding difficulties, vomiting, volume depletion, undervirilization in newborn males, and mild virilization and clitoromegaly in newborn female. Diagnosis for<unk>  is based on delta-5-17-hydroxypregnenolone high levels in serum laboratory tests. The mainstay of therapy for this disease is hydrocortisone and fludrocortisone acetate. The reconstruction surgery for ambiguous genitalia in genetically male patients may be applied.
3 beta-hydroxysteroid dehydrogenase deficiency
17-beta-hydroxysteroid dehydrogenase deficiency
17 alpha-hydroxylase deficiency
21-hydroxylase deficiency
11β-hydroxylase deficiency
18-Hydroxylase deficiency
5-alpha-reductase deficiency
21-Hydroxylase Deficiency