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Results 1 - 10 of 11 for Congenital adrenal hyperplasia
  1. Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that ...
  2. ... 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 ...
  3. ... 2 cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 Cytosteroid 21-Monooxygenase P450c21B steroid 21- ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2002 Jun;87(6): ... 87.6.8559. Citation on PubMed Pang S. Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. Endocrinol ...
  8. ... the CYP11B1 gene have been found to cause congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency, a ... Nimkarn S, New MI. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrinol Metab. 2008 Apr;19(3):96- ...
  9. ... Hauffa BP, Malunowicz EM, Stewart PM, Shackleton CH. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen ...
  10. ... 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 ( ...
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