Federico G Hawkins-Carranza1, María T Muñoz-Calvo2,3,4, Gabriel Á Martos-Moreno2,3,4, Gonzalo Allo-Miguel1, Luis Del Río5, Jesús Pozo2,3,4, Julie A Chowen2,3,4,6, Luis A Pérez-Jurado7,8,9, Jesús Argente2,3,4,6. 1. Diabetes and Bone Research Group, Institute i+12, Complutense University and Hospital 12 de Octubre, Madrid, Spain. 2. Department of Pediatrics and Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain. 3. Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain. 4. Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain. 5. CETIR Centre Medic, Barcelona, Spain. 6. IMDEA Food Institute, CEI UAM + CSIC, Madrid, Spain. 7. Genetics Unit, Universitat Pompeu Fabra, Barcelona, Spain. 8. Hospital del Mar Research Institute (IMIM), Barcelona, Spain. 9. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
Abstract
AIM: Our objective was to determine changes in bone mineral density (BMD), trabecular bone score (TBS), and body composition after 2 years of therapy with recombinant human insulin-like growth factor-1 (rhIGF-1) in 2 prepubertal children with a complete lack of circulating PAPP-A2 due to a homozygous mutation in PAPP-A2 (p.D643fs25*) resulting in a premature stop codon. METHODS: Body composition, BMD, and bone structure were determined by dual-energy X-ray absorptiometry at baseline and after 1 and 2 years of rhIGF-1 treatment. RESULTS: Height increased from 132 to 145.5 cm (patient 1) and from 111.5 to 124.5 cm (patient 2). Bone mineral content increased from 933.40 to 1,057.97 and 1,152.77 g in patient 1, and from 696.12 to 773.26 and 911.51 g in patient 2, after 1 and 2 years, respectively. Whole-body BMD also increased after 2 years of rhIGF-1 from baseline 0.788 to 0.869 g/cm2 in patient 1 and from 0.763 to 0.829 g/cm2 in patient 2. After 2 years of treatment, both children had an improvement in TBS. During therapy, a slight increase in body fat mass was seen, with a concomitant increase in lean mass. No adverse effects were reported. CONCLUSION: Two years of rhIGF-1 improved growth, with a tendency to improve bone mass and bone microstructure and to modulate body composition.
AIM: Our objective was to determine changes in bone mineral density (BMD), trabecular bone score (TBS), and body composition after 2 years of therapy with recombinant humaninsulin-like growth factor-1 (rhIGF-1) in 2 prepubertal children with a complete lack of circulating PAPP-A2 due to a homozygous mutation in PAPP-A2 (p.D643fs25*) resulting in a premature stop codon. METHODS: Body composition, BMD, and bone structure were determined by dual-energy X-ray absorptiometry at baseline and after 1 and 2 years of rhIGF-1 treatment. RESULTS: Height increased from 132 to 145.5 cm (patient 1) and from 111.5 to 124.5 cm (patient 2). Bone mineral content increased from 933.40 to 1,057.97 and 1,152.77 g in patient 1, and from 696.12 to 773.26 and 911.51 g in patient 2, after 1 and 2 years, respectively. Whole-body BMD also increased after 2 years of rhIGF-1 from baseline 0.788 to 0.869 g/cm2 in patient 1 and from 0.763 to 0.829 g/cm2 in patient 2. After 2 years of treatment, both children had an improvement in TBS. During therapy, a slight increase in body fat mass was seen, with a concomitant increase in lean mass. No adverse effects were reported. CONCLUSION: Two years of rhIGF-1 improved growth, with a tendency to improve bone mass and bone microstructure and to modulate body composition.
Authors: Helen L Storr; Sumana Chatterjee; Louise A Metherell; Corinne Foley; Ron G Rosenfeld; Philippe F Backeljauw; Andrew Dauber; Martin O Savage; Vivian Hwa Journal: Endocr Rev Date: 2019-04-01 Impact factor: 19.871
Authors: Gabriel Á Martos-Moreno; Lourdes Travieso-Suárez; Jesús Pozo-Román; María T Muñoz-Calvo; Julie A Chowen; Mikko J Frilander; Luis A Pérez-Jurado; Federico G Hawkins; Jesús Argente Journal: EMBO Mol Med Date: 2018-07 Impact factor: 12.137
Authors: Vicente Barrios; Julie A Chowen; Álvaro Martín-Rivada; Santiago Guerra-Cantera; Jesús Pozo; Shoshana Yakar; Ron G Rosenfeld; Luis A Pérez-Jurado; Juan Suárez; Jesús Argente Journal: Cells Date: 2021-12-18 Impact factor: 6.600