Analysis of children with familial short stature: who should be indicated for genetic testing?
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F23%3A10466490" target="_blank" >RIV/00216208:11130/23:10466490 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/23:10466490
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=vQ-FR9HVSX" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=vQ-FR9HVSX</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1530/EC-23-0238" target="_blank" >10.1530/EC-23-0238</a>
Alternative languages
Result language
angličtina
Original language name
Analysis of children with familial short stature: who should be indicated for genetic testing?
Original language description
Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected. Clinical predictors of monogenic FSS have not been elucidated. The aim of the study was to identify the monogenic etiology and its clinical predictors in FSS children. Of 747 patients treated with growth hormone (GH) in our center, 95 with FSS met the inclusion criteria (pretreatment height <=-2 SD in child and his/her shorter parent, excluded secondary short stature, excluded Turner/Prader-Willi syndrome). Genetic etiology was known in 11/95 children before the study, remaining 84 were examined by next-generation sequencing. The results were evaluated by ACMG guidelines. Nonparametric tests evaluated differences between monogenic and non-monogenic FSS, an ROC curve estimated quantitative cutoffs for the predictors. Monogenic FSS was confirmed in 36/95 (38%) children. Of these, 29 (81%) carried a causative genetic variant affecting the growth plate, four (11%) a variant affecting GH-IGF1 axis, and three (8%) a variant in miscellaneous genes. Lower shorter parent's height (p=0.015) and less delayed bone age (BA) before GH treatment (p=0.026) predicted monogenic FSS. In children with BA delayed less than 0.4 years and with shorter parent heights <-2.4 SD, monogenic FSS was revealed in 13/16 (81%) cases. To conclude, in FSS children treated with GH, a monogenic etiology is frequent, gene variants affecting the growth plate are the most common. Shorter parent's height and bone age are clinical predictors of monogenic FSS.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30209 - Paediatrics
Result continuities
Project
<a href="/en/project/NV18-07-00283" target="_blank" >NV18-07-00283: Studies of aetiopathogenesis and optimising management in children with intrauterine growth restriction and persistent postnatal growth failure</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Endocrine Connections
ISSN
2049-3614
e-ISSN
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Volume of the periodical
12
Issue of the periodical within the volume
10
Country of publishing house
GB - UNITED KINGDOM
Number of pages
8
Pages from-to
e230238
UT code for WoS article
001082008100004
EID of the result in the Scopus database
2-s2.0-85172695913