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Detection of geneti...
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Nyström, Helena Filipsson,1966Gothenburg University,Göteborgs universitet,Institutionen för medicin,Institute of Medicine
(författare)
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.
- Artikel/kapitelEngelska2011
Förlag, utgivningsår, omfång ...
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2010-12-05
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Springer Science and Business Media LLC,2011
Nummerbeteckningar
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LIBRIS-ID:oai:gup.ub.gu.se/130452
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https://gup.ub.gu.se/publication/130452URI
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https://doi.org/10.1007/s11102-010-0278-8DOI
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
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Idiopathic pituitary insufficiency (IPI) is diagnosed in 10% of all hypopituitary patients. There are several known and unknown aetiologies within the IPI group. The aim of this study was to investigate an adult IPI population for genetic cause according a screening schedule. From files of 373 GH deficient (GHD) patients on GH replacement 50 cases with IPI were identified. Of the 39 patients that approved to the study, 25 patients were selected for genetic investigation according to phenotype and 14 patients were not further tested, as sporadic isolated GHD (n=9) and GHD with diabetes insipidus (n=5) have low probability for a known genetic cause. Genotyping of all coding exons of HESX1, LHX4, PROP1, POU1F1 and GH1 genes were performed according to a diagnostic algorithm based on clinical, hormonal and neuroradiological phenotype. Among the 25 patients, an overall rate of 8% of mutations was found, and a 50% rate in familial cases. Among two sibling pairs, one pair that presented with complete anterior pituitary insufficiency, had a compound heterozygous PROP1 gene mutation (codons 117 and 120: exon 3 p Phe 117 Ile (c349 T>A) and p Arg 120 Cys (c358 C>T)) with a phenotype of very late onset ACTH-insufficiency. In the other sibling pair and in the sporadic cases no mutation was identified. This study suggests that currently known genetic causes are rare in sporadic adult IPI patients, and that systematic genetic screening is not needed in adult-onset sporadic cases of IPI. Conversely, familial cases are highly suspect for genetic causes.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Saveanu, Alexandru
(författare)
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Barbosa, Edna J L,1961Gothenburg University,Göteborgs universitet,Institutionen för medicin,Institute of Medicine
(författare)
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Barlier, Anne
(författare)
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Enjalbert, Alain
(författare)
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Glad, Camilla A M,1981Gothenburg University,Göteborgs universitet,Institutionen för medicin,Institute of Medicine(Swepub:gu)xglaca
(författare)
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Palming, Jenny,1975Gothenburg University,Göteborgs universitet,Institutionen för medicin,Institute of Medicine(Swepub:gu)xpalje
(författare)
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Johannsson, Gudmundur,1960Gothenburg University,Göteborgs universitet,Institutionen för medicin,Institute of Medicine(Swepub:gu)xjgudn
(författare)
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Brue, Thierry
(författare)
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Göteborgs universitetInstitutionen för medicin
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Pituitary: Springer Science and Business Media LLC14:3, s. 208-2161573-74031386-341X
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Nyström, Helena ...
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Saveanu, Alexand ...
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Barbosa, Edna J ...
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Barlier, Anne
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Enjalbert, Alain
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Glad, Camilla A ...
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Palming, Jenny, ...
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Johannsson, Gudm ...
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Brue, Thierry
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Endokrinologi oc ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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- NATURVETENSKAP
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NATURVETENSKAP
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och Biologi
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och Genetik
- Artiklar i publikationen
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Pituitary
- Av lärosätet
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Göteborgs universitet