Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency> ?p ?o }
Showing triples 1 to 78 of
78
with 100 triples per page.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency 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.".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency thumbnail Cortisol2.svg?width=300.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageID "715895".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageLength "8233".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageOutDegree "45".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageRevisionID "593844617".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink 17-Hydroxypregnenolone.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink 17-Hydroxyprogesterone.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink 3beta-Hydroxysteroid_dehydrogenase.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Adrenal_gland.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Adrenal_insufficiency.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Adrenocorticotropic_hormone.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Androstenedione.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Category:Adrenal_gland_disorders.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Category:Cholesterol_and_steroid_metabolism_disorders.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Category:Intersex_and_medicine.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Category:Pediatrics.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Congenital_adrenal_hyperplasia.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Corticosteroid.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Cortisol.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Dehydroepiandrosterone.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Disorders_of_sex_development.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Enzyme.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Estrogen.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Fertility.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Fludrocortisone.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Gene.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink HSD3B1.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink HSD3B2.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Hirsutism.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Inborn_errors_of_steroid_metabolism.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Intersex.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Mineralocorticoid.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Pregnenolone.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Progesterone.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Pseudohermaphroditism.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Puberty.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Sex_steroid.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Testosterone.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLink Virilization.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLinkText "3 beta".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLinkText "3β-HSD CAH".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLinkText "3β-hydroxysteroid dehydrogenase 2 deficiency".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLinkText "3β-hydroxysteroid dehydrogenase".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLinkText "Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLinkText "congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageWikiLinkText "congenital adrenal hyperplasia".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency caption Cortisol.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency diseasesdb "4".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency emedicinesubj "ped".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency emedicinetopic "1051".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency icd "255.2".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency icd "E25.0".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency meshid "D000312".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency name "Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency omim "201810".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageUsesTemplate Template:Defects_of_steroid_metabolism.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageUsesTemplate Template:Endocrine_pathology.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageUsesTemplate Template:Infobox_Disease.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wikiPageUsesTemplate Template:Reflist.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency subject Category:Adrenal_gland_disorders.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency subject Category:Cholesterol_and_steroid_metabolism_disorders.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency subject Category:Intersex_and_medicine.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency subject Category:Pediatrics.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency hypernym Form.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency type Disorder.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency type Error.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency type Pediatric.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency type Specialty.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency 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).".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency label "Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency".
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency sameAs Q4127186.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency sameAs m.0358fk.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency sameAs Врождённая_гиперплазия_коры_надпочечников_вследствие_недостаточности_3-бета-гидроксистероиддегидрогеназы.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency sameAs Q4127186.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency wasDerivedFrom Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency?oldid=593844617.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency depiction Cortisol2.svg.
- Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency isPrimaryTopicOf Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency.