FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2801834886> ?p ?o ?g. }

• W2801834886 endingPage "6" @default.
• W2801834886 startingPage "1" @default.
• W2801834886 abstract "Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. CT scan revealed enlarged adrenal glands bilaterally and the absence of the uterus, the ovaries, and the Fallopian tubes. Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of the CYP17A1 gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) mutation in exon 6. Hydrocortisone and ethinyl-estradiol supplementation therapy led to incomplete withdrawal of antihypertensive drug and breast development progression to Tanner stage B2 and slight height increase, respectively.We describe a late-discovered case of CAH with 46,XY disorder of sex development. Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed." @default.
• W2801834886 created "2018-05-17" @default.
• W2801834886 creator A5005594699 @default.
• W2801834886 creator A5063136435 @default.
• W2801834886 creator A5065662010 @default.
• W2801834886 creator A5069336804 @default.
• W2801834886 creator A5074839378 @default.
• W2801834886 creator A5088220553 @default.
• W2801834886 date "2018-01-01" @default.
• W2801834886 modified "2023-10-01" @default.
• W2801834886 title "46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation ofCYP17A1Gene: Consequences of Late Diagnosis" @default.
• W2801834886 cites W1989300914 @default.
• W2801834886 cites W1990046865 @default.
• W2801834886 cites W2024940157 @default.
• W2801834886 cites W2072083367 @default.
• W2801834886 cites W2118209240 @default.
• W2801834886 cites W2129876849 @default.
• W2801834886 cites W2149901360 @default.
• W2801834886 cites W2152760742 @default.
• W2801834886 cites W2158499208 @default.
• W2801834886 cites W2160832884 @default.
• W2801834886 cites W2175029769 @default.
• W2801834886 cites W2255726339 @default.
• W2801834886 cites W2298595356 @default.
• W2801834886 cites W2405860439 @default.
• W2801834886 cites W2531177436 @default.
• W2801834886 cites W2564506884 @default.
• W2801834886 cites W2591532870 @default.
• W2801834886 cites W2604595158 @default.
• W2801834886 cites W4210400066 @default.
• W2801834886 cites W594761163 @default.
• W2801834886 doi "https://doi.org/10.1155/2018/2086861" @default.
• W2801834886 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5941809" @default.
• W2801834886 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29854486" @default.
• W2801834886 hasPublicationYear "2018" @default.
• W2801834886 type Work @default.
• W2801834886 sameAs 2801834886 @default.
• W2801834886 citedByCount "4" @default.
• W2801834886 countsByYear W28018348862019 @default.
• W2801834886 countsByYear W28018348862021 @default.
• W2801834886 countsByYear W28018348862022 @default.
• W2801834886 countsByYear W28018348862023 @default.
• W2801834886 crossrefType "journal-article" @default.
• W2801834886 hasAuthorship W2801834886A5005594699 @default.
• W2801834886 hasAuthorship W2801834886A5063136435 @default.
• W2801834886 hasAuthorship W2801834886A5065662010 @default.
• W2801834886 hasAuthorship W2801834886A5069336804 @default.
• W2801834886 hasAuthorship W2801834886A5074839378 @default.
• W2801834886 hasAuthorship W2801834886A5088220553 @default.
• W2801834886 hasBestOaLocation W28018348861 @default.
• W2801834886 hasConcept C104317684 @default.
• W2801834886 hasConcept C126322002 @default.
• W2801834886 hasConcept C134018914 @default.
• W2801834886 hasConcept C142716871 @default.
• W2801834886 hasConcept C2776354409 @default.
• W2801834886 hasConcept C2776880931 @default.
• W2801834886 hasConcept C2777691561 @default.
• W2801834886 hasConcept C2777767042 @default.
• W2801834886 hasConcept C2777871287 @default.
• W2801834886 hasConcept C2778058571 @default.
• W2801834886 hasConcept C2778242168 @default.
• W2801834886 hasConcept C2779234561 @default.
• W2801834886 hasConcept C54355233 @default.
• W2801834886 hasConcept C71315377 @default.
• W2801834886 hasConcept C71924100 @default.
• W2801834886 hasConcept C86803240 @default.
• W2801834886 hasConceptScore W2801834886C104317684 @default.
• W2801834886 hasConceptScore W2801834886C126322002 @default.
• W2801834886 hasConceptScore W2801834886C134018914 @default.
• W2801834886 hasConceptScore W2801834886C142716871 @default.
• W2801834886 hasConceptScore W2801834886C2776354409 @default.
• W2801834886 hasConceptScore W2801834886C2776880931 @default.
• W2801834886 hasConceptScore W2801834886C2777691561 @default.
• W2801834886 hasConceptScore W2801834886C2777767042 @default.
• W2801834886 hasConceptScore W2801834886C2777871287 @default.
• W2801834886 hasConceptScore W2801834886C2778058571 @default.
• W2801834886 hasConceptScore W2801834886C2778242168 @default.
• W2801834886 hasConceptScore W2801834886C2779234561 @default.
• W2801834886 hasConceptScore W2801834886C54355233 @default.
• W2801834886 hasConceptScore W2801834886C71315377 @default.
• W2801834886 hasConceptScore W2801834886C71924100 @default.
• W2801834886 hasConceptScore W2801834886C86803240 @default.
• W2801834886 hasLocation W28018348861 @default.
• W2801834886 hasLocation W28018348862 @default.
• W2801834886 hasLocation W28018348863 @default.
• W2801834886 hasLocation W28018348864 @default.
• W2801834886 hasLocation W28018348865 @default.
• W2801834886 hasOpenAccess W2801834886 @default.
• W2801834886 hasPrimaryLocation W28018348861 @default.
• W2801834886 hasRelatedWork W2019014610 @default.
• W2801834886 hasRelatedWork W2048955825 @default.
• W2801834886 hasRelatedWork W2086689275 @default.
• W2801834886 hasRelatedWork W2104949955 @default.
• W2801834886 hasRelatedWork W2175029769 @default.
• W2801834886 hasRelatedWork W2624756175 @default.
• W2801834886 hasRelatedWork W2801834886 @default.
• W2801834886 hasRelatedWork W3038275947 @default.
• W2801834886 hasRelatedWork W3209792747 @default.

• next