title: Challenges in the Management of Short Stature.
abstract: Human growth, from fetal life to adolescence, is dynamic and a good marker of health. Growth is a complex process influenced by genetic, hormonal, nutritional and environmental factors, both pre- and postnatally. To date, no international agreement regarding normal height has been established. Auxological parameters are fundamental to investigate potential short stature (SS), either with a known diagnosis, e.g. disproportionate or proportionate, prenatal and/or postnatal onset, or an unknown diagnosis, i.e. idiopathic SS. The incidence/prevalence of SS is difficult to establish. The measurement of choice in children aged <2 years is length, while in those >2 years of age it is height. A number of monogenic diseases that lead to proportionate SS due to either isolated growth hormone deficiency, multiple pituitary hormone deficiency, growth hormone insensitivity, primary acid-labile subunit deficiency, primary IGF-1 deficiency, IGF-1 resistance, primary IGF-2 deficiency or primary protease deficiency have been discovered in the last 30 years. In addition, the Nosology and Classification of Genetic Skeletal Disorders revised in 2015 includes 436 conditions, with a number of genes of 364. A practical algorithm for the evaluation of SS as well as therapeutic options are discussed.
authors.affiliation: Department of Pediatrics and Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, and CIBER de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.
authors.forename: Jesús
authors.initials: J
authors.lastname: Argente
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007334:Insulin-Like Growth Factor I / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D007335:Insulin-Like Growth Factor II / Q000172:deficiency*; D008297:Male
chemical_list: C035170:IGF2 protein, human; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D007335:Insulin-Like Growth Factor II