ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2020

ey0017.4-12 | New paradigms | ESPEYB17

4.12. IGSF1 Deficiency results in human and murine somatotrope neurosecretory hyperfunction

SD Joustra , F Roelfsema , ASP van Trotsenburg , HJ Schneider , RP Kosilek , HM Kroon , JG Logan , NC Butterfield , X Zhou , C Toufaily , B Bak , MO Turgeon , E Brule , FJ Steyn , M Gurnell , O Koulouri , P Le Tissier , P Fontanaud , JHD Bassett , GR Williams , W Oostdijk , JM Wit , AM Pereira , NR Biermasz , DJ Bernard , N Schoenmakers

To read the full abstract: J Clin Endocrinol Metab, March 2020, 105(3):e70–e84A cohort of 21 adult males (aged 19 to 89 years) harboring hemizygous pathogenic IGSF1 gene mutations underwent anthropometry, endocrine testing, testis ultrasonography, and body composition assessment to define the pathophysiological role of IGSF1 in influencing GH secretion. In addition, two lines of Igsf1 -deficient male mice were use...

ey0017.4-13 | New paradigms | ESPEYB17

4.13. IGF1-mediated human embryonic stem cell self-renewal recapitulates the embryonic niche

SE Wamaitha , KJ Grybel , G Alanis-Lobato , C Gerri , S Ogushi , A AMcCarthy , SK Mahadevaiah , L Healy , RA Lea , M Molina-Arcas , LG Devito , K Elder , P Snell , L Christie , J Downward , JMA Turner , KK Niakan

To read the full abstract: Nat Commun. 2020 Feb 7;11(1):764.The signaling pathways involved in the regulation of early human development are largely unknown and the IGF system has been proposed to play a major role (1). The knowledge of mechanisms and actors involved in early life development is crucial to develop successful strategies for maintaining pluripotent human embryonic stem cells (hESCs).This sophisticated study ...

ey0017.4-14 | New paradigms | ESPEYB17

4.14. Circulating IGF-1 independently predicts blood pressure in children with higher calcium-phosphorus product levels

S Xargay-Torrent , E Dorado-Ceballos , A Benavides-Boixader , E Lizarraga-Mollinedo , B Mas-Pares , M Montesinos-Costa , F De Zegher , L Ibanez , J Bassols , A Lopez-Bermejo

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz101.The aim of this prospective longitudinal study of 521 healthy children (8.8 ± 0.1) was to evaluate the correlation of circulating IGF-I levels with metabolic and cardiovascular parameters and the potential interaction with the Calcium-Phosphorus product (Ca*P). 158 subjects were re-evaluated after a follow-up of 5 years. Baseline IGF-I and IGF-I/IGFBP-3 molar r...