Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.

International Journal of Pediatric Endocrinology
Paul Saenger, Edward Reiter

Abstract

The term small for gestational age (SGA) refers to infants whose birth weights and/or lengths are at least two standard deviation (SD) units less than the mean for gestational age. This condition affects approximately 3%-10% of newborns. Causes for SGA birth include environmental factors, placental factors such as abnormal uteroplacental blood flow, and inherited genetic mutations. In the past two decades, an enhanced understanding of genetics has identified several potential causes for SGA. These include mutations that affect the growth hormone (GH)/insulin-like growth factor (IGF)-1 axis, including mutations in the IGF-1 gene and acid-labile subunit (ALS) deficiency. In addition, select polymorphisms observed in patients with SGA include those involved in genes associated with obesity, type 2 diabetes, hypertension, ischemic heart disease and deletion of exon 3 growth hormone receptor (d3-GHR) polymorphism. Uniparental disomy (UPD) and imprinting effects may also underlie some of the phenotypes observed in SGA individuals. The variety of genetic mutations associated with SGA births helps explain the diversity of phenotype characteristics, such as impaired motor or mental development, present in individuals with this disorder...Continue Reading

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Citations

Sep 3, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Doris FrankeMiroslav Živičnjak
Mar 18, 2015·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Makiko TachibanaYoko Miyoshi
Feb 24, 2016·European Journal of Endocrinology·Lars SävendahlOliver Blankenstein
Mar 13, 2020·Global Health Research and Policy·Patricia MallmaJay S Kaufman
Jan 16, 2020·Genes·Jessica L O'CallaghanElise S Pelzer
Feb 17, 2021·Journal of Perinatology : Official Journal of the California Perinatal Association·Kartikeya MakkerXiaobin Wang

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Methods Mentioned

BETA
SGA

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