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Sediva, Hana; Dusatkova, Petra; Kanderova, Veronika; Obermannova, Barbora; Kayserova, Jana; Sramkova, Lucie; Zemkova, Dana; Elblova, Lenka; Svaton, Michal; Zachova, Radana; Kolouskova, Stanislava; Fronkova, Eva; Sumnik, Zdenek; Sediva, Anna; Lebl, Jan; Pruhova, Stepanka

Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?

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  • Medientyp: E-Artikel
  • Titel: Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
  • Beteiligte: Sediva, Hana; Dusatkova, Petra; Kanderova, Veronika; Obermannova, Barbora; Kayserova, Jana; Sramkova, Lucie; Zemkova, Dana; Elblova, Lenka; Svaton, Michal; Zachova, Radana; Kolouskova, Stanislava; Fronkova, Eva; Sumnik, Zdenek; Sediva, Anna; Lebl, Jan; Pruhova, Stepanka
  • Erschienen: S. Karger AG, 2017
  • Erschienen in: Hormone Research in Paediatrics, 88 (2017) 2, Seite 160-166
  • Sprache: Englisch
  • DOI: 10.1159/000456544
  • ISSN: 1663-2818; 1663-2826
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <b><i>Background:</i></b> Germline <i>STAT3</i> gain-of-function (GOF) mutations cause multiple endocrine and haematologic autoimmune disorders, lymphoproliferation, and growth impairment. As the JAK-STAT pathway is known to transduce the growth hormone (GH) signalling, and STAT3 interacts with STAT5 in growth regulation, we hypothesised that short stature in <i>STAT3</i> GOF mutations results mostly from GH insensitivity via involving activation of STAT5. <b><i>Case Report:</i></b> A boy with a novel <i>STAT3</i> c.2144C>T (p.Pro715Leu) mutation presented with short stature (–2.60 SD at 5.5 years). He developed diabetes mellitus at 11 months, generalised lympho­proliferation, autoimmune thyroid disease, and immune bicytopenia in the subsequent years. At 5.5 years, his insulin-like growth factor-1 (IGF-I) was 37 µg/L (–2.22 SD) but stimulated GH was 27.7 µg/L. Both a standard IGF-I generation test (GH 0.033 mg/kg/day sc; 4 days) and a high-dose prolonged IGF-I generation test (GH 0.067 mg/kg/day sc; 14 days) failed to significantly increase IGF-I levels (37–46 and 72–87 µg/L, respectively). The boy underwent haematopoietic stem cell transplantation at 6 years due to severe neutropenia and massive lymphoproliferation, but unfortunately deceased 42 days after transplantation from reactivated generalised adenoviral infection. <b><i>Conclusions:</i></b> Our findings confirm the effect of <i>STAT3</i> GOF mutation on the downstream activation of STAT5 resulting in partial GH insensitivity.