Matches in SemOpenAlex for { <https://semopenalex.org/work/W2110574247> ?p ?o ?g. }
Showing items 1 to 83 of
83
with 100 items per page.
- W2110574247 endingPage "S154" @default.
- W2110574247 startingPage "S154" @default.
- W2110574247 abstract "Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by steroidogenic enzyme gene defects involved in biosynthesis of cortisol and aldosterone. CAH due to 17 α-hydroxylase deficiency (17OHD) is a rare disorder associated with hypertension. The 17 α-hydroxylase is necessary for the biosynthesis of adrenal glucocorticoids and androgens. The enzyme deficiency in adrenals causes decreased cortisol and sex steroid production. Adrenals and gonads share the 17 α-hydroxylase defect. Affected females present with primary amenorrhea and lack of development of secondary sex characteristics. In males, it is characterized by reduced virilization causing male pseudohermaphroditism. Increased ACTH owing to low cortisol levels increases the synthesis of 11-deoxycorticosterone (DOC) and corticosterone resulting in sodium retention, hypertension, hypokalemia and suppressed PRA and aldosterone. The 17a-hydroxylase has both 17a-hydroxylase and 17,20-lyase activity. The gene for P450c17 (CYP17) maps to chromosome 10q24.3. Mutations of 17 α-hydroxylase have been documented in the cytochrome P450c17. Here, we are presenting a female patient with CAH owing to 17OHD. This patient presented at the age of 31.5 year and was initially diagnosed at the age of 15 elsewhere, when she demonstrated hypertension (148/99), hypokalemia, and delayed puberty (Tanner 2 breast and pubic hair, and infantile genitalia). Her plasma cortisol level was 0 before ACTH stimulation and 2.4 ug/dl after ACTH suggesting a cortisol synthesis defect. The level of DOC and corticosterone were elevated suggesting the 17OHD. Her other hormonal evaluation indicated that there was also androgen defect. She was placed on glucocorticoid treatment and sex-steroids. DNA sequencing of her CYP17 gene revealed a maternal heterozygous mutation in exon 2 (R125Q) and an exon 8 (R416H) (the father was not available for analysis). These are new mutations in the CYP17 gene. Am J Hypertens (2004) 17, 154A–154A; doi: 10.1016/j.amjhyper.2004.03.403" @default.
- W2110574247 created "2016-06-24" @default.
- W2110574247 creator A5007677208 @default.
- W2110574247 creator A5023953305 @default.
- W2110574247 creator A5033785127 @default.
- W2110574247 date "2004-05-01" @default.
- W2110574247 modified "2023-09-26" @default.
- W2110574247 title "Two novel mutations found in a patient with 17 ?-hydroxylase enzyme deficiency" @default.
- W2110574247 doi "https://doi.org/10.1016/j.amjhyper.2004.03.403" @default.
- W2110574247 hasPublicationYear "2004" @default.
- W2110574247 type Work @default.
- W2110574247 sameAs 2110574247 @default.
- W2110574247 citedByCount "0" @default.
- W2110574247 crossrefType "journal-article" @default.
- W2110574247 hasAuthorship W2110574247A5007677208 @default.
- W2110574247 hasAuthorship W2110574247A5023953305 @default.
- W2110574247 hasAuthorship W2110574247A5033785127 @default.
- W2110574247 hasBestOaLocation W21105742471 @default.
- W2110574247 hasConcept C126322002 @default.
- W2110574247 hasConcept C134018914 @default.
- W2110574247 hasConcept C142716871 @default.
- W2110574247 hasConcept C155392382 @default.
- W2110574247 hasConcept C181199279 @default.
- W2110574247 hasConcept C198710026 @default.
- W2110574247 hasConcept C2776069600 @default.
- W2110574247 hasConcept C2776631543 @default.
- W2110574247 hasConcept C2777767042 @default.
- W2110574247 hasConcept C2777911890 @default.
- W2110574247 hasConcept C2778242168 @default.
- W2110574247 hasConcept C2778525890 @default.
- W2110574247 hasConcept C2780249997 @default.
- W2110574247 hasConcept C2780321258 @default.
- W2110574247 hasConcept C2780352252 @default.
- W2110574247 hasConcept C2780902042 @default.
- W2110574247 hasConcept C2908730789 @default.
- W2110574247 hasConcept C55493867 @default.
- W2110574247 hasConcept C71315377 @default.
- W2110574247 hasConcept C71924100 @default.
- W2110574247 hasConcept C84393581 @default.
- W2110574247 hasConcept C86803240 @default.
- W2110574247 hasConceptScore W2110574247C126322002 @default.
- W2110574247 hasConceptScore W2110574247C134018914 @default.
- W2110574247 hasConceptScore W2110574247C142716871 @default.
- W2110574247 hasConceptScore W2110574247C155392382 @default.
- W2110574247 hasConceptScore W2110574247C181199279 @default.
- W2110574247 hasConceptScore W2110574247C198710026 @default.
- W2110574247 hasConceptScore W2110574247C2776069600 @default.
- W2110574247 hasConceptScore W2110574247C2776631543 @default.
- W2110574247 hasConceptScore W2110574247C2777767042 @default.
- W2110574247 hasConceptScore W2110574247C2777911890 @default.
- W2110574247 hasConceptScore W2110574247C2778242168 @default.
- W2110574247 hasConceptScore W2110574247C2778525890 @default.
- W2110574247 hasConceptScore W2110574247C2780249997 @default.
- W2110574247 hasConceptScore W2110574247C2780321258 @default.
- W2110574247 hasConceptScore W2110574247C2780352252 @default.
- W2110574247 hasConceptScore W2110574247C2780902042 @default.
- W2110574247 hasConceptScore W2110574247C2908730789 @default.
- W2110574247 hasConceptScore W2110574247C55493867 @default.
- W2110574247 hasConceptScore W2110574247C71315377 @default.
- W2110574247 hasConceptScore W2110574247C71924100 @default.
- W2110574247 hasConceptScore W2110574247C84393581 @default.
- W2110574247 hasConceptScore W2110574247C86803240 @default.
- W2110574247 hasIssue "5" @default.
- W2110574247 hasLocation W21105742471 @default.
- W2110574247 hasOpenAccess W2110574247 @default.
- W2110574247 hasPrimaryLocation W21105742471 @default.
- W2110574247 hasRelatedWork W1981633019 @default.
- W2110574247 hasRelatedWork W2068166788 @default.
- W2110574247 hasRelatedWork W2074000225 @default.
- W2110574247 hasRelatedWork W2098220178 @default.
- W2110574247 hasRelatedWork W2101834938 @default.
- W2110574247 hasRelatedWork W2188170891 @default.
- W2110574247 hasRelatedWork W2607356200 @default.
- W2110574247 hasRelatedWork W3026525480 @default.
- W2110574247 hasRelatedWork W4220926326 @default.
- W2110574247 hasRelatedWork W4296153575 @default.
- W2110574247 hasVolume "17" @default.
- W2110574247 isParatext "false" @default.
- W2110574247 isRetracted "false" @default.
- W2110574247 magId "2110574247" @default.
- W2110574247 workType "article" @default.