{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:10:45Z","timestamp":1760145045997,"version":"build-2065373602"},"reference-count":26,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T00:00:00Z","timestamp":1718323200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ipsen Biopharmaceuticals Canada","award":["ISS-OTHER-0267"],"award-info":[{"award-number":["ISS-OTHER-0267"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>(1) Background: Severe primary insulin-like growth factor-I deficiency (SPIGFD) is a rare disorder causing short stature in children due to low insulin-like growth factor 1 (IGF-1) levels. Given the sparsity of reported cases of SPIGFD worldwide, the condition may be underdiagnosed, potentially preventing affected children from receiving therapy with recombinant human IGF-1 (rhIGF-1). Our objective was to determine the prevalence of SPIGFD among children with short stature at a large pediatric tertiary care center through the use of a novel electronic medical record (EMR) algorithm. (2) Methods: We queried our EMR using an algorithm that detected all children seen at our center between 1 November 2013 and 31 August 2021 with short stature and low IGF-1. We then conducted chart reviews, applying established diagnostic criteria for those identified with potential SPIGFD. (3) Results: From a cohort of 4863 children with short stature, our algorithm identified 30 (0.6%) patients with potential SPIGFD. Using chart reviews, we determined that none of these patients had SPIGFD. (4) Conclusions: Our algorithm can be used in other EMRs to identify which patients are likely to have SPIGFD and thus benefit from treatment with rhIGF-1. This model can be replicated for other rare diseases.<\/jats:p>","DOI":"10.3390\/children11060727","type":"journal-article","created":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T08:52:10Z","timestamp":1718355130000},"page":"727","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Characterization of Primary IGF-1 Deficiency in a Cohort of Canadian Children with Short Stature Using a Novel Algorithm Tailored to Electronic Medical Records"],"prefix":"10.3390","volume":"11","author":[{"given":"Rinila","family":"Haridas","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3447-3290","authenticated-orcid":false,"given":"Carly","family":"Baxter","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada"},{"name":"Division of Endocrinology & Metabolism, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada"},{"name":"Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8L1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5935-8101","authenticated-orcid":false,"given":"Saunya","family":"Dover","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen B.","family":"Goldbloom","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada"},{"name":"Division of Endocrinology & Metabolism, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada"},{"name":"Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8L1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Terekhov","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2539-227X","authenticated-orcid":false,"given":"Marie-Eve","family":"Robinson","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada"},{"name":"Division of Endocrinology & Metabolism, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada"},{"name":"Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8L1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1159\/000351958","article-title":"Adult and Near-Adult Height in Patients with Severe Insulin-Like Growth Factor-I Deficiency after Long-Term Therapy with Recombinant Human Insulin-Like Growth Factor-I","volume":"80","author":"Backeljauw","year":"2013","journal-title":"Horm. Res. Paediatr."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1159\/000090643","article-title":"Treatment of Insulin-Like Growth Factor Deficiency with IGF-I: Studies in Humans","volume":"65","author":"Backeljauw","year":"2006","journal-title":"Horm. Res."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Llahana, S., Follin, C., Yedinak, C., and Grossman, A. (2019). Short stature, growth hormone deficiency, and primary IGF-1 deficiency. Advanced Practice in Endocrinology Nursing, Springer International Publishing.","DOI":"10.1007\/978-3-319-99817-6"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1210\/jc.2003-031033","article-title":"Laron Syndrome (Primary Growth Hormone Resistance or Insensitivity): The Personal Experience 1958\u20132003","volume":"89","author":"Laron","year":"2004","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1210\/jc.2006-1610","article-title":"Long-Term Treatment with Recombinant Insulin-Like Growth Factor (IGF)-I in Children with Severe IGF-I Deficiency due to Growth Hormone Insensitivity","volume":"92","author":"Chernausek","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/s40268-014-0039-7","article-title":"Managing the Child with Severe Primary Insulin-Like Growth Factor-1 Deficiency (IGFD): IGFD Diagnosis and Management","volume":"14","author":"Cohen","year":"2014","journal-title":"Drugs R D"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1530\/EJE-20-0325","article-title":"Effectiveness and Safety of rhIGF1 Therapy in Patients with or without Laron Syndrome","volume":"184","author":"Bang","year":"2021","journal-title":"Eur. J. Endocrinol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1159\/000090641","article-title":"Defining Insulin-Like Growth Factor-I Deficiency","volume":"65","author":"Ranke","year":"2006","journal-title":"Horm. Res."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1530\/EJE-14-0071","article-title":"Characterization and Prevalence of Severe Primary IGF1 Deficiency in a Large Cohort of French Children with Short Stature","volume":"170","author":"Teissier","year":"2014","journal-title":"Eur. J. Endocrinol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1530\/EJE-08-0964","article-title":"Prevalence of IGF1 Deficiency in Prepubertal Children with Isolated Short Stature","volume":"161","author":"Edouard","year":"2009","journal-title":"Eur. J. Endocrinol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"155","DOI":"10.2165\/00063030-200923030-00002","article-title":"Insulin-Like Growth Factor-I Deficiency in Children with Growth Hormone Insensitivity: Current and Future Treatment Options","volume":"23","author":"Kemp","year":"2009","journal-title":"BioDrugs"},{"key":"ref_12","unstructured":"WHO (2023, March 03). WHO Growth Charts for Canada 2014. Available online: https:\/\/www.dietitians.ca\/Secondary-Pages\/Public\/Who-Growth-Charts.aspx."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1210\/jc.2007-1534","article-title":"The Role of Recombinant Human Insulin-Like Growth Factor-I in Treating Children with Short Stature","volume":"93","author":"Misra","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1136\/adc.51.3.170","article-title":"Clinical Longitudinal Standards for Height, Weight, Height Velocity, Weight Velocity, and Stages of Puberty","volume":"51","author":"Tanner","year":"1976","journal-title":"Arch. Dis. Child."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Greulich, W.W., and Pyle, S.I. (1959). Radiographic Atlas of Skeletal Development of the Hand and Wrist, Stanford University Press.","DOI":"10.1097\/00000441-195909000-00030"},{"key":"ref_16","first-page":"32","article-title":"International Statistical Classification of Diseases and Related Health Problems. Tenth Revision","volume":"41","year":"1988","journal-title":"World Health Stat. Q."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1210\/jc.2002-020867","article-title":"Prediction of Response to Growth Hormone Treatment in Short Children Born Small for Gestational Age: Analysis of Data from KIGS (Pharmacia International Growth Database)","volume":"88","author":"Ranke","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"S56","DOI":"10.1016\/S0022-3476(97)70013-1","article-title":"National Cooperative Growth Study Substudy VI: The Clinical Utility of Growth-Hormone-Binding Protein, Insulin-Like Growth Factor I, and Insulin-Like Growth Factor-Binding Protein 3 Measurements","volume":"131","author":"Attie","year":"1997","journal-title":"J. Pediatr."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1159\/000090644","article-title":"Patient Selection for IGF-I Therapy","volume":"65","author":"Clayton","year":"2006","journal-title":"Horm. Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.ghir.2009.09.004","article-title":"The Current Status of IGF-I Assays\u2014A 2009 Update","volume":"20","author":"Frystyk","year":"2010","journal-title":"Growth Horm. IGF Res."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1111\/j.1651-2227.1994.tb13305.x","article-title":"The Insulin-Like Growth Factor I Generation Test in the Investigation of Short Stature","volume":"83","author":"Cotterill","year":"1994","journal-title":"Acta Paediatr."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1159\/000452150","article-title":"Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency","volume":"86","author":"Grimberg","year":"2016","journal-title":"Horm. Res. Paediatr."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"14604582211053259","DOI":"10.1177\/14604582211053259","article-title":"Diagnosing Post-Traumatic Stress Disorder Using Electronic Medical Record Data","volume":"27","author":"Zafari","year":"2021","journal-title":"Health Inf. J."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s11689-022-09447-9","article-title":"An Electronic Health Record (EHR) Phenotype Algorithm to Identify Patients with Attention Deficit Hyperactivity Disorders (ADHD) and Psychiatric Comorbidities","volume":"14","author":"Slaby","year":"2022","journal-title":"J. Neurodev. Disord."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1002\/pds.4204","article-title":"Identifying Rare Diseases Using Electronic Medical Records: The Example of Allergic Bronchopulmonary Aspergillosis","volume":"26","author":"Maguire","year":"2017","journal-title":"Pharmacoepidemiol. Drug Saf."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1016\/j.kint.2019.11.037","article-title":"Electronic Health Records for the Diagnosis of Rare Diseases","volume":"97","author":"Garcelon","year":"2020","journal-title":"Kidney Int."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/11\/6\/727\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:58:26Z","timestamp":1760108306000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/11\/6\/727"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,14]]},"references-count":26,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,6]]}},"alternative-id":["children11060727"],"URL":"https:\/\/doi.org\/10.3390\/children11060727","relation":{},"ISSN":["2227-9067"],"issn-type":[{"type":"electronic","value":"2227-9067"}],"subject":[],"published":{"date-parts":[[2024,6,14]]}}}