About: Mutations and Pituitary Morphology in a Series of 82 Patients with PROP1 Gene Defects     Goto   Sponge   NotDistinct   Permalink

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  • 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 biphasic mode with increasing volume during childhood, peak in adolescence, and subsequent regression in adulthood. Conclusion: Although pituitary size was increased in a number of PROP1-deficient patients, none of them suffered permanent damage from pituitary mass; therefore, any proposed surgery should be postponed as long as possible and ultimately may not be necessary due to the self-limiting nature of the pituitary enlargement. Copyright (C) 2011 S. Karger AG, Basel
  • 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 biphasic mode with increasing volume during childhood, peak in adolescence, and subsequent regression in adulthood. Conclusion: Although pituitary size was increased in a number of PROP1-deficient patients, none of them suffered permanent damage from pituitary mass; therefore, any proposed surgery should be postponed as long as possible and ultimately may not be necessary due to the self-limiting nature of the pituitary enlargement. Copyright (C) 2011 S. Karger AG, Basel (en)
Title
  • Mutations and Pituitary Morphology in a Series of 82 Patients with PROP1 Gene Defects
  • Mutations and Pituitary Morphology in a Series of 82 Patients with PROP1 Gene Defects (en)
skos:prefLabel
  • Mutations and Pituitary Morphology in a Series of 82 Patients with PROP1 Gene Defects
  • Mutations and Pituitary Morphology in a Series of 82 Patients with PROP1 Gene Defects (en)
skos:notation
  • RIV/00064203:_____/11:7131!RIV12-MZ0-00064203
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I
http://linked.open...iv/cisloPeriodika
  • 5
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 214396
http://linked.open...ai/riv/idVysledku
  • RIV/00064203:_____/11:7131
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • PROP1; Hypopituitarism; Pituitary size, mass; Magnetic resonance imaging; hormone deficiency; gland; enlargement; mr; cohort; children; siblings; deletion; height; growth (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • CH - Švýcarská konfederace
http://linked.open...ontrolniKodProRIV
  • [055FC618E7D3]
http://linked.open...i/riv/nazevZdroje
  • Hormone Research in Paediatrics
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 76
http://linked.open...iv/tvurceVysledku
  • Cinek, Ondřej
  • Lebl, Jan
  • Obermannová, Barbora
  • Bezlepkina, O.
  • Blum, WF
  • Child, CJ
  • Frisch, H.
  • Peterkova, V.
  • Pfaeffle, R.
  • Smetanina, N.
  • Starzyk, J.
  • Verkauskiene, R.
  • Zygmunt-Gorska, A.
http://linked.open...ain/vavai/riv/wos
  • 000297576800009
issn
  • 1663-2818
number of pages
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