The aetiology of extreme tall stature in a screened Finnish paediatric population

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dc.contributor.author Kärkinen, Juho
dc.contributor.author Sorakunnas, Eero
dc.contributor.author Miettinen, Päivi J.
dc.contributor.author Raivio, Taneli
dc.contributor.author Hero, Matti
dc.date.accessioned 2022-02-18T09:37:02Z
dc.date.available 2022-02-18T09:37:02Z
dc.date.issued 2021-12
dc.identifier.citation Kärkinen , J , Sorakunnas , E , Miettinen , P J , Raivio , T & Hero , M 2021 , ' The aetiology of extreme tall stature in a screened Finnish paediatric population ' , EClinicalMedicine , vol. 42 , 101208 . https://doi.org/10.1016/j.eclinm.2021.101208
dc.identifier.other PURE: 174272518
dc.identifier.other PURE UUID: 16dc8c47-ef0b-43d2-ac7b-26a3eb1aa22e
dc.identifier.other Scopus: 85119346374
dc.identifier.other ORCID: /0000-0002-5184-9616/work/108466481
dc.identifier.other WOS: 000752559800004
dc.identifier.uri http://hdl.handle.net/10138/340632
dc.description Publisher Copyright: © 2021 The Authors
dc.description.abstract Background: Extremely tall children (defined as height SDS (HSDS) ≥+3) are frequently referred to specialized healthcare for diagnostic work-up. However, no systematic studies focusing on such children currently exist. We investigated the aetiology, clinical features, and auxological clues indicative of syndromic tall stature in extremely tall children subject to population-wide growth monitoring and screening rules. Methods: Subjects with HSDS ≥+3 after three years of age born between 1990 and 2010 were identified from the Helsinki University Hospital district growth database. We comprehensively reviewed their medical records up to December 2020 and recorded underlying diagnoses, auxological data, and clinical features. Findings: We identified 424 subjects (214 girls and 210 boys) who fulfilled the inclusion criteria. Underlying growth disorder was diagnosed in 61 (14%) patients, in 36 (17%) girls and 25 (12%) boys, respectively (P=0•15). Secondary causes were diagnosed in 42 (10%) patients and the two most frequent secondary diagnoses, premature adrenarche, and central precocious puberty were more frequent in girls. Primary disorder, mainly Marfan or Sotos syndrome, was diagnosed in 19 (4%) patients. Molecular genetic studies were used as a part of diagnostic work-up in 120 subjects. However, array CGH or next-generation sequencing studies were seldom used. Idiopathic tall stature (ITS) was diagnosed in 363 (86%) subjects, and it was considered familial in two-thirds. Dysmorphic features or a neurodevelopmental disorder were recorded in 104 (29%) children with ITS. The probability of a monogenic primary growth disorder increased with the degree of tall stature and deviation from target height. Interpretation: A considerable proportion of extremely tall children have an underlying primary or secondary growth disorder, and their risk is associated with auxological parameters. Clinical features related to syndromic tall stature were surprisingly frequent in subjects with ITS, supporting the view that syndromic growth disorders with mild phenotypes may be underdiagnosed in extremely tall children. Our results lend support to comprehensive diagnostic work-up of extremely tall children. Funding: Päivikki and Sakari Sohlberg Foundation, Foundation for Pediatric Research, and Helsinki University Hospital research grants. en
dc.format.extent 12
dc.language.iso eng
dc.relation.ispartof EClinicalMedicine
dc.rights cc_by_nc_nd
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject 3123 Gynaecology and paediatrics
dc.title The aetiology of extreme tall stature in a screened Finnish paediatric population en
dc.type Article
dc.contributor.organization Helsinki University Hospital Area
dc.contributor.organization HUS Children and Adolescents
dc.contributor.organization Children's Hospital
dc.contributor.organization Centre of Excellence in Stem Cell Metabolism
dc.contributor.organization Clinicum
dc.contributor.organization Timo Pyry Juhani Otonkoski / Principal Investigator
dc.contributor.organization Research Programs Unit
dc.contributor.organization Department of Physiology
dc.contributor.organization STEMM - Stem Cells and Metabolism Research Program
dc.contributor.organization Raivio Group
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1016/j.eclinm.2021.101208
dc.relation.issn 2589-5370
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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