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ey0016.4-4 | Important for Clinical Practice | ESPEYB16

4.4. Phenotypic features and response to growth hormone treatment of patients with a molecular defect of the IGF-1 receptor

MJE Walenkamp , JML Robers , JM Wit , GRJ Zandwijken , HA van Duyvenvoorde , W Oostdijk , ACS Hokken-Koelega , SG Kant , M Losekoot

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 31573171.The IGF receptor gene IGF1R is located at 15q26.3 locus and encodes for a tyrosine kinase receptor which mediates the IGF-I biological actions. The key role of IGF-IR in growth and development was proved in IGF1R null mice that had severely impaired prenatal growth and invariably died at birth ...

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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):e70e84A 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...

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ESPE Yearbook of Paediatric Endocrinology

4.4. Phenotypic features and response to growth hormone treatment of patients with a molecular defect of the IGF-1 receptor

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

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