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To read the full abstract: Nat Rev Endocrinol 2018;14:285-300This is an interesting review of the history of research in the field of GH-IGF1 and the clinical use of GH. It comprises a timeline starting in 1884 with the description of dwarfism (General Tom Thumb) and gigantism, and ending in 2015-16 describing the discovery of paternally inherited IGF2 mutations and PAPPA-2 mutations as causes f...

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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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ey0015.4-11 | New perspectives | ESPEYB15

4.11 Genetic analyses in small-for-gestational-age newborns

SE Stalman , N Solanky , M Ishida , C Alemán-Charlet , S Abu-Amero , M Alders , L Alvizi , W Baird , C Demetriou , P Henneman , C James , LC Knegt , LJ Leon , MMAM Mannens , AN Mul , NA Nibbering , E Peskett , FI Rezwan , C Ris-Stalpers , JAM van der Post , GA Kamp , FB Plötz , JM Wit , P Stanier , GE Moore , RC Hennekam

To read the full abstract: J Clin Endocrinol Metab 2018; 103:917-925SGA is often defined as a birth weight and/or length < −2 SDS for gestational age and gender [43]. A frequent cause of SGA is fetal growth restriction (FGR), often associated with perinatal mortality and morbidity and also implicated in a higher risk of cardio-metabolic disease in adulthood. ...

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ey0017.4-1 | Important for clinical practice | ESPEYB17

4.1. Diagnosis, genetics, and therapy of short stature in children: A growth hormone research society international perspective

PF Collett-Solberg , G Ambler , PF Backeljauw , M Bidlingmaier , BMK Biller , MCS Boguszewski , PT Cheung , CSY Choong , LE Cohen , P Cohen , A Dauber , CL Deal , C Gong , Y Hasegawa , AR Hoffman , PL Hofman , R Horikawa , AAL Jorge , A Juul , P Kamenicky , V Khadilkar , JJ Kopchick , B Kristrom , MdLA Lopes , X Luo , BS Miller , M Misra , I Netchine , S Radovick , MB Ranke , AD Rogol , RG Rosenfeld , P Saenger , JM Wit , J Woelfle

To read the full abstract: Horm Res Paediatr. 2019;92:114In March 2019, 46 international experts from 14 countries across 5 continents attended a 3-day workshop organized by the Growth Hormone Research Society (GRS) and produced this perspective on the diagnosis, management and therapy in children with short stature. In this context, this expert panel tackled almost all aspects related to the management of children with short stature, prov...

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ESPE Yearbook of Paediatric Endocrinology

1.12 Growth hormone - past, present and future

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

4.11 Genetic analyses in small-for-gestational-age newborns

4.1. Diagnosis, genetics, and therapy of short stature in children: A growth hormone research society international perspective

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