Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency

María T. Muñoz-Calvo, Vicente Barrios, Jesús Pozo, Julie A. Chowen, Gabriel Martos-Moreno, Federico Hawkins, Andrew Dauber, Horacio M. Domené, Shoshana Yakar, Ron G. Rosenfeld, Luis A. Pérez-Jurado, Claus Oxvig, Jan Frystyk, Jesús Argente

Research output: Contribution to journalArticle

Abstract

Context: Pregnancy-associated plasma protein-A2 (PAPP-A2) is a metalloproteinase that specifically cleaves IGFBP-3 and IGFBP-5. Mutations in the PAPP-A2 gene have recently been shown to cause postnatal growth failure in humans, with specific skeletal features, due to the resulting decrease in IGF-1 bioavailability. However, a pharmacological treatment of this entity is yet to be established. Case Description: A 10.5-year-old girl and a 6-year-old boy, siblings from a Spanish family, with short stature due to a homozygous loss-of-function mutation in the PAPP-A2 gene (p.D643fs25.) and undetectable PAPP-A2 activity, were treated with progressive doses (40, 80, 100, and 120 mu;g/kg) of recombinant human IGF-1 (rhIGF-1) twice daily for 1 year. There was a clear increase in growth velocity and height in both siblings. Bioactive IGF-1 was increased, and spontaneous GH secretion was diminished after acute administration of rhIGF-1, whereas serum total IGF-1 and IGFBP-3 levels remained elevated. No episodes of hypoglycemia or any other secondary effects were observed during treatment. Conclusion: Short-term treatment with rhIGF-1 improves growth in patients with PAPP-A2 deficiency. (J Clin Endocrinol Metab 101: 3879-3883, 2016).

Original languageEnglish (US)
Pages (from-to)3879-3883
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume101
Issue number11
DOIs
StatePublished - Nov 1 2016

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Protein Deficiency
Somatomedins
Insulin-Like Growth Factor I
varespladib methyl
Blood Proteins
Pregnancy
Growth
Insulin-Like Growth Factor Binding Protein 3
Siblings
Therapeutics
Genes
Insulin-Like Growth Factor Binding Protein 5
Mutation
Metalloproteases
Hypoglycemia
Biological Availability
Pharmacology
Serum

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Muñoz-Calvo, M. T., Barrios, V., Pozo, J., Chowen, J. A., Martos-Moreno, G., Hawkins, F., ... Argente, J. (2016). Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency. Journal of Clinical Endocrinology and Metabolism, 101(11), 3879-3883. https://doi.org/10.1210/jc.2016-2751

Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency. / Muñoz-Calvo, María T.; Barrios, Vicente; Pozo, Jesús; Chowen, Julie A.; Martos-Moreno, Gabriel; Hawkins, Federico; Dauber, Andrew; Domené, Horacio M.; Yakar, Shoshana; Rosenfeld, Ron G.; Pérez-Jurado, Luis A.; Oxvig, Claus; Frystyk, Jan; Argente, Jesús.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 101, No. 11, 01.11.2016, p. 3879-3883.

Research output: Contribution to journalArticle

Muñoz-Calvo, MT, Barrios, V, Pozo, J, Chowen, JA, Martos-Moreno, G, Hawkins, F, Dauber, A, Domené, HM, Yakar, S, Rosenfeld, RG, Pérez-Jurado, LA, Oxvig, C, Frystyk, J & Argente, J 2016, 'Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency', Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 11, pp. 3879-3883. https://doi.org/10.1210/jc.2016-2751
Muñoz-Calvo, María T. ; Barrios, Vicente ; Pozo, Jesús ; Chowen, Julie A. ; Martos-Moreno, Gabriel ; Hawkins, Federico ; Dauber, Andrew ; Domené, Horacio M. ; Yakar, Shoshana ; Rosenfeld, Ron G. ; Pérez-Jurado, Luis A. ; Oxvig, Claus ; Frystyk, Jan ; Argente, Jesús. / Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency. In: Journal of Clinical Endocrinology and Metabolism. 2016 ; Vol. 101, No. 11. pp. 3879-3883.
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