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Results 1 - 6 of 6 for Congenital adrenal hyperplasia
  1. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 
    Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that ...
    https://medlineplus.gov/...sia-due-to-11-beta-hydroxylase-deficiency - Genetics
  2. 17 alpha-hydroxylase/17,20-lyase deficiency 
    ... one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development ... lyase deficiency accounts for about 1 percent of congenital adrenal hyperplasia cases. It is estimated to occur in 1 ...
    https://medlineplus.gov/...-alpha-hydroxylase-17-20-lyase-deficiency - Genetics
  3. 21-hydroxylase deficiency 
    ... one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. ... for about 95 percent of all cases of congenital adrenal hyperplasia. Mutations in the CYP21A2 gene cause 21-hydroxylase ...
    https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency - Genetics
  4. Cytochrome P450 oxidoreductase deficiency 
    ... partial deficiency of 17-hydroxylase and 21-hydroxylase Congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency POR deficiency PORD Genetic Testing Registry: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Antley-Bixler ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  5. 3-beta-hydroxysteroid dehydrogenase deficiency 
    ... one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development ... dehydrogenase deficiency 3β-HSD deficiency 3β-HSD deficiency congenital adrenal hyperplasia 3β-hydroxysteroid dehydrogenase deficiency Type II 3β-hydroxysteroid ...
    https://medlineplus.gov/...a-hydroxysteroid-dehydrogenase-deficiency - Genetics
  6. X-linked adrenal hypoplasia congenita 
    ... Mukai T, Nakae J. Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita. J Steroid Biochem Mol ... 10.1007/BF02760584. Citation on PubMed Tabarin A. Congenital adrenal hypoplasia and DAX-1 gene mutations. Ann Endocrinol ( ...
    https://medlineplus.gov/.../x-linked-adrenal-hypoplasia-congenita - Genetics