FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2918391694> ?p ?o ?g. }

• W2918391694 endingPage "267" @default.
• W2918391694 startingPage "259" @default.
• W2918391694 abstract "Abstract Background 11β-hydroxylase deficiency (11βOHD) is a rare disease representing the second most common cause of congenital adrenal hyperplasia (CAH) (5–8%) with an incidence of about 1:100,000. In contrast to 21-hydroxylase deficiency (21OHD), 11βOHD is not included in neonatal screening programmes. The objective of this study was to demonstrate the typical features of male patients with 11βOHD. Methods Clinical, biochemical and radiological data of patients with 11βOHD were analysed in this retrospective single-centre analysis. Results Six male patients of four unrelated families with 11βOHD were identified (0.1–13.5 years of chronological age [CA] at diagnosis). The predominant symptoms were arterial hypertension, tall stature and precocious pseudopuberty. Bone ages (BAs) were remarkably advanced at diagnosis in four index patients (median difference BA–CA: 5.5 years, range 1.5–9.2 years). Homozygous mutations were identified in exon 7 (c.1179_1180dupGA [p.Asn394Argfs*37]) and exon 8 (c.1398+2T>C) of the CYP11B1 gene leading both to a complete loss of function. The latter mutation has not yet been described in databases. 11βOHD was identified by the measurement of 11-deoxycortisol in a newborn screening card of one patient retrospectively. Testicular adrenal rest tumours (TARTs) were detected in three patients at 3.7 years, 11 years and 14.4 years. Conclusion The diagnosis of CAH due to 11βOHD is delayed and should be suspected in children with arterial hypertension, tall stature and precocious pseudopuberty. Patients may develop TARTs as early as infancy. 11βOHD should be included in newborn screening programmes, at least in newborns of index families, to allow early diagnosis and the start of treatment to reduce morbidity." @default.
• W2918391694 created "2019-03-11" @default.
• W2918391694 creator A5003884201 @default.
• W2918391694 creator A5013700445 @default.
• W2918391694 creator A5019535697 @default.
• W2918391694 creator A5032842825 @default.
• W2918391694 creator A5052300502 @default.
• W2918391694 creator A5053900893 @default.
• W2918391694 creator A5062306176 @default.
• W2918391694 creator A5079308381 @default.
• W2918391694 creator A5080304129 @default.
• W2918391694 creator A5084780216 @default.
• W2918391694 date "2019-02-28" @default.
• W2918391694 modified "2023-10-15" @default.
• W2918391694 title "Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature" @default.
• W2918391694 cites W1560791018 @default.
• W2918391694 cites W1596860235 @default.
• W2918391694 cites W1965561480 @default.
• W2918391694 cites W1970162147 @default.
• W2918391694 cites W1972295191 @default.
• W2918391694 cites W1972363573 @default.
• W2918391694 cites W1977212349 @default.
• W2918391694 cites W1989831107 @default.
• W2918391694 cites W1992402111 @default.
• W2918391694 cites W1993887819 @default.
• W2918391694 cites W1996212044 @default.
• W2918391694 cites W2000241372 @default.
• W2918391694 cites W2011090208 @default.
• W2918391694 cites W2011967115 @default.
• W2918391694 cites W2022040813 @default.
• W2918391694 cites W2037607727 @default.
• W2918391694 cites W2037985168 @default.
• W2918391694 cites W2070315497 @default.
• W2918391694 cites W2071716879 @default.
• W2918391694 cites W2072534931 @default.
• W2918391694 cites W2073903800 @default.
• W2918391694 cites W2074000225 @default.
• W2918391694 cites W2085730245 @default.
• W2918391694 cites W2094365410 @default.
• W2918391694 cites W2131957162 @default.
• W2918391694 cites W2140495698 @default.
• W2918391694 cites W2141027451 @default.
• W2918391694 cites W2166794042 @default.
• W2918391694 cites W2171589158 @default.
• W2918391694 cites W2315573381 @default.
• W2918391694 cites W2319603627 @default.
• W2918391694 cites W2411949595 @default.
• W2918391694 cites W2491849061 @default.
• W2918391694 cites W2560241221 @default.
• W2918391694 cites W2582026011 @default.
• W2918391694 cites W2591065823 @default.
• W2918391694 cites W2618739883 @default.
• W2918391694 cites W2753870635 @default.
• W2918391694 cites W2795856718 @default.
• W2918391694 cites W4237093973 @default.
• W2918391694 doi "https://doi.org/10.1515/jpem-2018-0298" @default.
• W2918391694 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30817301" @default.
• W2918391694 hasPublicationYear "2019" @default.
• W2918391694 type Work @default.
• W2918391694 sameAs 2918391694 @default.
• W2918391694 citedByCount "13" @default.
• W2918391694 countsByYear W29183916942019 @default.
• W2918391694 countsByYear W29183916942020 @default.
• W2918391694 countsByYear W29183916942021 @default.
• W2918391694 countsByYear W29183916942022 @default.
• W2918391694 countsByYear W29183916942023 @default.
• W2918391694 crossrefType "journal-article" @default.
• W2918391694 hasAuthorship W2918391694A5003884201 @default.
• W2918391694 hasAuthorship W2918391694A5013700445 @default.
• W2918391694 hasAuthorship W2918391694A5019535697 @default.
• W2918391694 hasAuthorship W2918391694A5032842825 @default.
• W2918391694 hasAuthorship W2918391694A5052300502 @default.
• W2918391694 hasAuthorship W2918391694A5053900893 @default.
• W2918391694 hasAuthorship W2918391694A5062306176 @default.
• W2918391694 hasAuthorship W2918391694A5079308381 @default.
• W2918391694 hasAuthorship W2918391694A5080304129 @default.
• W2918391694 hasAuthorship W2918391694A5084780216 @default.
• W2918391694 hasConcept C120665830 @default.
• W2918391694 hasConcept C121332964 @default.
• W2918391694 hasConcept C126322002 @default.
• W2918391694 hasConcept C187212893 @default.
• W2918391694 hasConcept C2776169613 @default.
• W2918391694 hasConcept C2777767042 @default.
• W2918391694 hasConcept C2777871287 @default.
• W2918391694 hasConcept C2778367240 @default.
• W2918391694 hasConcept C2780321258 @default.
• W2918391694 hasConcept C61511704 @default.
• W2918391694 hasConcept C71315377 @default.
• W2918391694 hasConcept C71924100 @default.
• W2918391694 hasConcept C89551170 @default.
• W2918391694 hasConceptScore W2918391694C120665830 @default.
• W2918391694 hasConceptScore W2918391694C121332964 @default.
• W2918391694 hasConceptScore W2918391694C126322002 @default.
• W2918391694 hasConceptScore W2918391694C187212893 @default.
• W2918391694 hasConceptScore W2918391694C2776169613 @default.
• W2918391694 hasConceptScore W2918391694C2777767042 @default.
• W2918391694 hasConceptScore W2918391694C2777871287 @default.
• W2918391694 hasConceptScore W2918391694C2778367240 @default.

• next