Aarhus University Seal / Aarhus Universitets segl

Claus Oxvig

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

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  • María Teresa Muñoz-Calvo, Department of Pediatrics & Pediatric Endocrinology. Hospital Infantil Universitario Niño Jesús. Instituto de Investigación La Princesa. Universidad Autónoma de Madrid. Department of Pediatrics. CIBEROBN. Instituto de Salud Carlos III. Madrid, Spain.;
  • ,
  • Vicente Barrios, Department of Pediatrics & Pediatric Endocrinology. Hospital Infantil Universitario Niño Jesús. Instituto de Investigación La Princesa. Universidad Autónoma de Madrid. Department of Pediatrics. CIBEROBN. Instituto de Salud Carlos III. Madrid, Spain.;
  • ,
  • Jesús Pozo, Department of Pediatrics & Pediatric Endocrinology. Hospital Infantil Universitario Niño Jesús. Instituto de Investigación La Princesa. Universidad Autónoma de Madrid. Department of Pediatrics. CIBEROBN. Instituto de Salud Carlos III. Madrid, Spain.;
  • ,
  • Julie A Chowen, Department of Pediatrics & Pediatric Endocrinology. Hospital Infantil Universitario Niño Jesús. Instituto de Investigación La Princesa. Universidad Autónoma de Madrid. Department of Pediatrics. CIBEROBN. Instituto de Salud Carlos III. Madrid, Spain.;
  • ,
  • Gabriel Á Martos-Moreno, Department of Pediatrics & Pediatric Endocrinology. Hospital Infantil Universitario Niño Jesús. Instituto de Investigación La Princesa. Universidad Autónoma de Madrid. Department of Pediatrics. CIBEROBN. Instituto de Salud Carlos III. Madrid, Spain.;
  • ,
  • Federico Hawkins, Department of Endocrinology. Hospital Universitario 12 de Octubre. Universidad Complutense de Madrid. Madrid, Spain;
  • ,
  • Andrew Dauber, Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center. Cincinnati, OH, USA.;
  • ,
  • Horacio M Domené, Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET, FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.;
  • ,
  • Shoshana Yakar, Department of Basic Science and Craniofacial Biology, NY University College of Dentistry. New York, NY, USA;
  • ,
  • Ron G Rosenfeld, Oregon Health and Science University. Portland, OR, and STAT5 LLC, Los Altos, CA, USA.;
  • ,
  • Luis A Pérez-Jurado, Genetics Unit, Universitat Pompeu Fabra; Hospital del Mar Research Institute (IMIM); & CIBERER. Instituto de Salud Carlos III. Barcelona, Spain.;
  • ,
  • Claus Oxvig
  • Jan Frystyk
  • Jesús Argente, Department of Pediatrics & Pediatric Endocrinology. Hospital Infantil Universitario Niño Jesús. Instituto de Investigación La Princesa. Universidad Autónoma de Madrid. Department of Pediatrics. CIBEROBN. Instituto de Salud Carlos III. Madrid, Spain.;

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-I 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 μg/kg) of recombinant human IGF-I (rhIGF-I) twice daily for one year. There was a clear increase in growth velocity and height in both siblings. Bioactive IGF-I was increased and spontaneous GH secretion was diminished after acute administration of rhIGF-I, while serum total IGF-I 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-I improves growth in patients with PAPP-A2 deficiency.

Original languageEnglish
JournalThe Journal of Clinical Endocrinology & Metabolism
Volume101
Issue11
Pages (from-to)3879-3883
Number of pages5
ISSN0021-972X
DOIs
Publication statusPublished - 2016

See relations at Aarhus University Citationformats

ID: 103888737