Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency

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

doi:10.1210/jc.2016-2751

Cited by 44 publications

(41 citation statements)

References 9 publications

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“…No significant changes in weight, BMI, head circumference, or skeletal maturation were observed. The researchers did not observe side effects of rhIGF1 treatment, such as the enlargement of kidney and spleen [45]. Treatment of PAPP-A2-deficient patients with rhIGF1 induced modifications in the GH/IGF1 axis, which could affect the long-term response.…”

Section: Prace Poglądowementioning

confidence: 96%

“…It is possible that increasing total IGF1 could change the equilibrium of the GH/IGF1 system and increase the bioactive IGF1 concentration, and finally improve growth velocity [44]. Munoz-Calvo et al treated two prepubertal siblings, a 10.5-year-old female and a six-year-old boy, born to nonconsanguineous Spanish parents with confirmed mutation in the PAPP-A2 gene, short stature, increased level of GH and IGF1, and decreased level of free IGF1 and PAPP-A2 [45]. The children were treated for one year.…”

Section: Prace Poglądowementioning

confidence: 99%

“…Initially 40-80 µg/kg of rhIGF1 were administered subcutaneously twice daily for six months. After nine months of treatment, the dose was progressively increased to 120 µg/kg twice daily [45]. Treatment with rhIGF1 accelerated growth velocity, improving the height SDS according to age and sex in both patients [45].…”

Section: Prace Poglądowementioning

confidence: 99%

“…After nine months of treatment, the dose was progressively increased to 120 µg/kg twice daily [45]. Treatment with rhIGF1 accelerated growth velocity, improving the height SDS according to age and sex in both patients [45]. No significant changes in weight, BMI, head circumference, or skeletal maturation were observed.…”

Section: Prace Poglądowementioning

confidence: 99%

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PAPP-A2 nowy regulator procesu wzrastania

Banaszak-Ziemska

Niedziela

2017

Endokrynologia Polska

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Short stature is the main problem that paediatric endocrinologists have to grapple with. Endocrine disorders account for only 5% of patients with short stature, but this is still one of the most common causes of reports to the endocrine clinic and hospitalisation in the endocrine department. A properly functioning growth hormone/insulin-like growth factor 1 (GH/IGF1) axis is one of the most important factors in proper growth. A lot of genetic defects in this axis lead to syndromes marked by impaired growth, like Laron syndrome, mutations in the STAT5B, insulin-like growth factor 1 (IGF1), and insulin-like growth factor 1 receptor (IGF1R) and mutations in the acid labile subunit (ALS). Two proteases important for the proper functioning of the GH/IGF1 axis: pregnancy-associated plasma protein-A (PAPP-A) and pregnancy-associated plasma protein-A2 (PAPP-A2), have been described. The first description of the new syndrome of growth failure associated with mutation in the PAPP-A2 gene was given by Andrew Dauber et al. This review evaluates the current data concerning PAPP-A2 function, and particularly the effect of PAPP-A2 mutation on growth. (Endokrynol Pol 2017; 68 (6): 682-687)

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Section: Prace Poglądowementioning

confidence: 96%

Section: Prace Poglądowementioning

confidence: 99%

Section: Prace Poglądowementioning

confidence: 99%

Section: Prace Poglądowementioning

confidence: 99%

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PAPP-A2 nowy regulator procesu wzrastania

Banaszak-Ziemska

Niedziela

2017

Endokrynologia Polska

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“…Short stature, skeletal abnormalities, and high circulating levels of total IGF-1, IGFBP-3, IGFBP-5, and acid-labile subunit (ALS) characterize this new syndrome. Because PAPP-A2-deficient patients do not exhibit growth hormone (GH) deficien cy, they were treated with recombinant human IGF-1 (rhIGF-1) [2]. We previously reported that these children had improved growth with no adverse effects after 1 year of rhIGF-1 administration [2].…”

Section: Introductionmentioning

confidence: 99%

rhIGF-1 Treatment Increases Bone Mineral Density and Trabecular Bone Structure in Children with PAPP-A2 Deficiency

et al. 2018

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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.

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