Adult height and long-term outcomes after rhIGF-1 therapy in two patients with PAPP-A2 deficiency
EntityUAM. Departamento de Pediatría
10.1016/j.ghir.2021.101419Growth Hormone & IGF Research 60-61 (2021): 101419
Funded byThis work was funded by the Spanish Ministry of Health with the help of European FEDER funding (FIS-PI19/00166)
ProjectGobierno de España. FIS-PI19/00166
SubjectsBone density; Free IGF-1; GH/IGF-1; Growth; PAPP-A2; rhIGF-1; Total IGF-1; Medicina
Rights© 2021 by the authors
Esta obra está bajo una licencia de Creative Commons Reconocimiento-NoComercial-SinObraDerivada 4.0 Internacional.
PAPP-A2 deficiency is a novel syndrome characterized by short stature due to low IGF bioactivity, skeletal abnormalities and decreased bone mineral density (BMD). Treatment with recombinant human IGF-1 (rhIGF-1) for 1 year demonstrated to increase growth velocity and BMD, without reported adverse effects, but data regarding the long-term efficacy and safety of rhIGF-1 administration in this entity has not yet been reported. Two Spanish siblings with short stature due to a homozygous loss-of-function mutation in the PAPP-A2 gene (p.D643fs25*) were treated with rhIGF-1 twice daily for six years. Growth velocity continued to increase and both patients achieved their target height. Free IGF-1 concentrations increased notably after rhIGF-1 administration, with serum IGFBP-3, IGFBP-5 and ALS levels also being higher during treatment. BMD was progressively normalized and an increase in lean mass was also noted during treatment. No episodes of hypoglycemia or any other adverse effects were documented. An increase in the growth of kidney and spleen length was observed in one of the patients
Google Scholar:Martín-Rivada, Álvaro - Barrios, Vicente - Martínez Díaz-Guerra, Guillermo - Pozo Román, Jesús - Martos Moreno, Gabriel Ángel - Argente Oliver, Jesús
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