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Results 1 - 8 of 8 for 3 "beta-Hydroxysteroid" dehydrogenase deficiency
  1. 3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females ...
  2. 17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one ...
  3. ... PubMed Pang S. Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. Endocrinol Metab Clin North Am. 2001 Mar;30(1):81-99, vi-vii. doi: 10.1016/s0889-8529(08)70020-3. Citation on PubMed Simard J, Moisan AM, Morel ...
  4. ... androstenedione. More than 20 mutations that cause 17-beta hydroxysteroid dehydrogenase 3 deficiency have been identified in the HSD17B3 gene. In ... the external sex organs that occur in 17-beta hydroxysteroid dehydrogenase 3 deficiency. More About This Health Condition 17-beta-HSD3 ...
  5. ... metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency. J Pediatr Gastroenterol Nutr. 2010 Jan;50(1):61-6. doi: 10.1097/MPG.0b013e3181b47b34. Citation on PubMed
  6. ... gene provides instructions for making an enzyme called 3 beta-hydroxysteroid dehydrogenase type 7 (3β-HSD7). This enzyme is found ... signs and symptoms of the condition. 3beta-HSDH deficiency 3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency ...
  7. ... beta-HSD 4 17-beta-HSD IV 17-beta-hydroxysteroid dehydrogenase 4 17beta-estradiol dehydrogenase type IV 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta- ... Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol. 2006 Jan;59(1):92-104. ...
  8. ... play a role in causing intellectual disability. 17-beta-hydroxysteroid dehydrogenase type 10 17β-HSD10 2-methyl-3-hydroxybutyryl-CoA dehydrogenase 3-hydroxy-2-methylbutyryl-CoA ...