Mutations and Pituitary Morphology in a Series of 82 Patients with PROP1 Gene Defects

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F11%3A7131" target="_blank" >RIV/00064203:_____/11:7131 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/11:7131

Result on the web

<a href="http://www.ncbi.nlm.nih.gov/pubmed/22024773" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/22024773</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Mutations and Pituitary Morphology in a Series of 82 Patients with PROP1 Gene Defects

Original language description

Background/Aims: Defects of the PROP1 gene are the most prevalent genetic cause of combined pituitary hormone deficiency. Previous observations in affected patients have shown pituitary size ranging from hypoplasia to overt pituitary mass and evolution of size over the lifespan. Methods: We evaluated pituitary size and morphology in PROP1-mutation carriers who originated from Central and Eastern Europe. We analyzed 112 pituitary magnetic resonance imaging (MRI) scans from 82 patients (42 males) aged 2.5-72.7 (median 16.6) years from 60 kindreds. Results: Among the 120 independent PROP1 alleles, the most prevalent mutations were delGA301/302 (99 alleles) and delA150 (13 alleles). Median pituitary height at first MRI was 4.7 mm (range 1.0-20.7) and median volume was 127.6 mm(3) (range 7.5-3,087.0). Pituitary size did not differ between sexes and did not correlate with hormonal phenotype, but significantly decreased with increasing age. However, evaluation of individual values suggested a

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2011

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Hormone Research in Paediatrics

ISSN

1663-2818

e-ISSN

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Volume of the periodical

76

Issue of the periodical within the volume

5

Country of publishing house

CH - SWITZERLAND

Number of pages

7

Pages from-to

348-354

UT code for WoS article

000297576800009

EID of the result in the Scopus database

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