About Aarhus University
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 newspaper › Journal article › Research › peer-review
Standard
Treatment with recombinant human insulin-like growth factor-I improves growth in patients with PAPP-A2 deficiency. / Teresa Muñoz-Calvo, María; Barrios, Vicente; Pozo, Jesús et al.
In: The Journal of Clinical Endocrinology & Metabolism, Vol. 101, No. 11, 2016, p. 3879-3883.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Harvard
APA
CBE
MLA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - Treatment with recombinant human insulin-like growth factor-I improves growth in patients with PAPP-A2 deficiency
AU - Teresa Muñoz-Calvo, María
AU - Barrios, Vicente
AU - Pozo, Jesús
AU - Chowen, Julie A
AU - Martos-Moreno, Gabriel Á
AU - Hawkins, Federico
AU - Dauber, Andrew
AU - Domené, Horacio M
AU - Yakar, Shoshana
AU - Rosenfeld, Ron G
AU - Pérez-Jurado, Luis A
AU - Oxvig, Claus
AU - Frystyk, Jan
AU - Argente, Jesús
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
U2 - 10.1210/jc.2016-2751
DO - 10.1210/jc.2016-2751
M3 - Journal article
C2 - 27648969
VL - 101
SP - 3879
EP - 3883
JO - Journal of Clinical Endocrinology and Metabolism
JF - Journal of Clinical Endocrinology and Metabolism
SN - 0021-972X
IS - 11
ER -