1.
Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family.
Babiker, A, Al Noaim, K, Al Swaid, A, Alfadhel, M, Deeb, A, Martín-Rivada, Á, Barrios, V, Pérez-Jurado, LA, Alfares, A, Al Alwan, I, et al
Clinical genetics. 2021;(5):601-606
Abstract
In 2016 a new syndrome with postnatal short stature and low IGF1 bioavailability caused by biallelic loss-of-function mutations in the gene encoding the metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) was described in two families. Here we report two siblings of a third family from Saudi Arabia with postnatal growth retardation and decreased IGF1 availability due to a new homozygous nonsense mutation (p.Glu886* in exon 7) in PAPPA2. The two affected males showed progressively severe short stature starting around 8 years of age, moderate microcephaly, decreased bone mineral density, and high circulating levels of total IGF1, IGFBP3, and the IGF acid-labile subunit (IGFALS), with decreased free IGF1 concentrations. Interestingly, circulating IGF2 and IGFBP5 were not increased. An increase in growth velocity and height was seen in the prepuberal patient in response to rhIGF1. These patients contribute to the confirmation of the clinical picture associated with PAPP-A2 deficiency and that the PAPPA2 gene should be studied in all patients with short stature with this characteristic phenotype. Hence, pediatric endocrinologists should measure circulating PAPP-A2 levels in the study of short stature as very low or undetectable levels of this protein can help to focus the diagnosis and treatment.
2.
Correction of hemodialysis anemia is associated with significant increase in serum concentration of IGF-I in patients treated with erythropoietin: a randomized controlled study.
Sheashaa, HA, Khalil, A, Aarman, MM, El-Shahat, FB, Selim, A, El-Gawad, SS
International urology and nephrology. 2005;(1):153-8
Abstract
BACKGROUND The effect of erythropoietin (EPO) therapy on the serum level of IGF-I among hemodialysis patients is debated. The aim of this study is to study the effect of EPO on the erythropoiesis and the change of serum level of IGF-I among adequately hemodialyzed patients. PATIENTS AND METHODS Forty patients (25 males and 15 females) who had an adequate level of both hemodialysis and nutrition were randomly allocated into two equal groups. Besides parenteral iron, the first group of patients received a conventional EPO dose regimen of 2000 U subcutaneously (SC) thrice weekly, the second group of patients remained on parenteral iron and ranked as a control group. The patients were subjected to thorough laboratory investigations. IGF-I concentration was measured before and at the end of the study. RESULTS Both groups were comparable in their demographic, laboratory, dialysis level, and nutritional status. There was no statistical differences in hemoglobin, hematocrit %, iron store indices and serum level of IGF-I at the study entry. We found a significant rise of both hemoglobin and hematocrit as well as IGF-I serum level in the EPO group at the end of the study in comparison to their values at the starting points in comparison to the control group (P< 0.001). CONCLUSION Erythropoietin therapy enhances erythropoiesis and modulates the serum concentration of IGF-I.