• Medientyp: E-Artikel
  • Titel: Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies : A Single-Centre Experience of Four Decades of Growth Hormone Replacement
  • Beteiligte: Rohayem, Julia [Verfasser:in]; Drechsel, Hendrik [Verfasser:in]; Tittel, Bettina [Verfasser:in]; Hahn, Gabriele [Verfasser:in]; Pfäffle, Roland [Verfasser:in]; Hübner, Angela [Verfasser:in]
  • Erschienen: Basel: Karger, [2020]
  • Erschienen in: Hormone research in paediatrics ; 86,2 (2016), Seite 106-116
  • Sprache: Englisch
  • DOI: 10.1159/000448098
  • Schlagwörter: Growth hormone deficiency ; Multiple Hypophyse Hormonmangel ; Isolierter Wachstumshormonmangel ; Pituitary morphology ; Gene ; Isolated growth hormone deficiency ; Hypophysen-Morphologie ; Genes ; Multiple pituitary hormone deficiency ; Wachstumshormonmangel
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  • Beschreibung: Background: Growth hormone (GH) has been used to treat children with GH deficiency (GHD) since 1966. Aims: Using a combined retrospective and cross-sectional approach, we explored the long-term outcomes of patients with GHD, analysed factors influencing therapeutic response, determined persistence into adulthood, investigated pituitary morphology, and screened for mutations in causative genes. Methods: The files of 96 GH-deficient children were reviewed. In a subset of 50 patients, re-assessment in adulthood was performed, including GHRH-arginine testing, pituitary magnetic resonance imaging (MRI), and mutational screening for the growth hormone-1 gene (GH1) and the GHRH receptor gene (GHRHR) in isolated GHD (IGHD), and HESX1 , PROP1 , POU1F1 , LHX3 , LHX4 , and GLI2 in multiple pituitary hormone deficiency (MPHD) patients. Results: GH was started at a height SDS of –3.2 ± 1.4 in IGHD patients and of –4.1 ± 2.1 in MPHD patients. Relative height gain was 0.3 SDS/year, absolute gain 1.6 SDS, and 1.2/2.6 SDS in IGHD/MPHD, respectively. Mid-parental target height was reached in 77%. Initial height SDS, bone age retardation and duration of GH replacement were correlated with height SDS gain. GHD persisted into adulthood in 19 and 89% of subjects with IGHD and MPHD, respectively. In 1/42 IGHD patients a GH1 mutation was detected; PROP1 mutations were found in 3/7 MPHD subjects. Anterior pituitary hypoplasia, combined with posterior pituitary ectopy and pituitary stalk invisibility on MRI, was an exclusive finding in MPHD patients. Conclusions: GH replacement successfully corrects the growth deficit in children with GHD. While the genetic aetiology remains undefined in most cases of IGHD, PROP1 mutations constitute a major cause for MPHD. Persistence of GHD into adulthood is related to abnormal pituitary morphology.
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  • Rechte-/Nutzungshinweise: Urheberrechtsschutz