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- Q4127186 subject Q16813146.
- Q4127186 subject Q5881496.
- Q4127186 subject Q8221741.
- Q4127186 subject Q8364490.
- Q4127186 abstract "3β-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3β-HSD CAH) is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation in the gene for one of the key enzymes in cortisol synthesis by the adrenal gland, 3β-hydroxysteroid dehydrogenase (3β-HSD) type II (HSD3B2). As a result, higher levels of 17OH-pregnenolone appear in the blood with adrenocorticotropic hormone (ACTH) challenge, which stimulates adrenal corticosteroid synthesis.There is a wide spectrum of clinical presentations of 3β-HSD CAH, from mild to severe forms. The uncommon severe form results from a complete loss of enzymatic activity and manifests itself in infancy as salt wasting due to the loss of mineralocorticoids. Milder forms resulting from incomplete loss of 3β-HSD type II function do not present with adrenal crisis, but can still produce virilization of genetically female infants and undervirilization of genetically male infants. As a result, this form of primary hypoadrenalism is the only form of CAH that can cause ambiguous genitalia in both genetic sexes.".
- Q4127186 thumbnail Cortisol2.svg?width=300.
- Q4127186 wikiPageWikiLink Q101065.
- Q4127186 wikiPageWikiLink Q1097630.
- Q4127186 wikiPageWikiLink Q1318776.
- Q4127186 wikiPageWikiLink Q1433654.
- Q4127186 wikiPageWikiLink Q15051314.
- Q4127186 wikiPageWikiLink Q1620594.
- Q4127186 wikiPageWikiLink Q16813146.
- Q4127186 wikiPageWikiLink Q175901.
- Q4127186 wikiPageWikiLink Q18027306.
- Q4127186 wikiPageWikiLink Q18027309.
- Q4127186 wikiPageWikiLink Q185690.
- Q4127186 wikiPageWikiLink Q190875.
- Q4127186 wikiPageWikiLink Q2064889.
- Q4127186 wikiPageWikiLink Q210420.
- Q4127186 wikiPageWikiLink Q2273662.
- Q4127186 wikiPageWikiLink Q229666.
- Q4127186 wikiPageWikiLink Q2507454.
- Q4127186 wikiPageWikiLink Q26963.
- Q4127186 wikiPageWikiLink Q2697578.
- Q4127186 wikiPageWikiLink Q277954.
- Q4127186 wikiPageWikiLink Q366868.
- Q4127186 wikiPageWikiLink Q408376.
- Q4127186 wikiPageWikiLink Q412158.
- Q4127186 wikiPageWikiLink Q422519.
- Q4127186 wikiPageWikiLink Q422812.
- Q4127186 wikiPageWikiLink Q5282521.
- Q4127186 wikiPageWikiLink Q5881496.
- Q4127186 wikiPageWikiLink Q712294.
- Q4127186 wikiPageWikiLink Q7187.
- Q4127186 wikiPageWikiLink Q8047.
- Q4127186 wikiPageWikiLink Q8221741.
- Q4127186 wikiPageWikiLink Q8364490.
- Q4127186 wikiPageWikiLink Q964401.
- Q4127186 comment "3β-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3β-HSD CAH) is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation in the gene for one of the key enzymes in cortisol synthesis by the adrenal gland, 3β-hydroxysteroid dehydrogenase (3β-HSD) type II (HSD3B2).".
- Q4127186 label "Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency".
- Q4127186 depiction Cortisol2.svg.