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SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report

Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis physiology. We present a kindred of five children e...

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Autores principales: Ungureanu, Maria-Christina, Hrisca, Anamaria, Caba, Lavinia, Teodoriu, Laura, Bilha, Stefana, Preda, Cristina, Leustean, Letitia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9818503/
https://www.ncbi.nlm.nih.gov/pubmed/36611397
http://dx.doi.org/10.3390/diagnostics13010105
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author Ungureanu, Maria-Christina
Hrisca, Anamaria
Caba, Lavinia
Teodoriu, Laura
Bilha, Stefana
Preda, Cristina
Leustean, Letitia
author_facet Ungureanu, Maria-Christina
Hrisca, Anamaria
Caba, Lavinia
Teodoriu, Laura
Bilha, Stefana
Preda, Cristina
Leustean, Letitia
author_sort Ungureanu, Maria-Christina
collection PubMed
description Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis physiology. We present a kindred of five children evaluated for short stature or low normal stature, initially diagnosticated as idiopathic short stature, familial short stature, or being small for gestational age. Clinical signs suggestive of SHOX deletion screening in a child with short stature are low arm span/height ratio, increased sitting height/height ratio, BMI > 50% percentile, Madelung deformity, cubitus valgus, bowing and shortening of the forearm, dislocation of the ulna (at the elbow), and the appearance of muscular hypertrophy. Radiological characteristics suggestive of SHOX deficiency are triangularisation of the distal radial epiphysis, an enlarged diaphysis of the radius plus bowing of the radius, the convexity of the distal radial metaphysis, short fourth and fifth metacarpals, pyramidalization of the carpal row. Treatment with rGH is approved for children with SHOX gene deficiency and short stature. This kindred is an example that familial short stature, idiopathic short stature, and short stature due to a small gestational age are not final diagnoses. Complex investigations are necessary to identify the precise cause, leading to optimal clinical management. Treatment with rGH is an option for some of them; for others, it has no therapeutic response and, in some cases, is even harmful.
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spelling pubmed-98185032023-01-07 SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report Ungureanu, Maria-Christina Hrisca, Anamaria Caba, Lavinia Teodoriu, Laura Bilha, Stefana Preda, Cristina Leustean, Letitia Diagnostics (Basel) Case Report Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis physiology. We present a kindred of five children evaluated for short stature or low normal stature, initially diagnosticated as idiopathic short stature, familial short stature, or being small for gestational age. Clinical signs suggestive of SHOX deletion screening in a child with short stature are low arm span/height ratio, increased sitting height/height ratio, BMI > 50% percentile, Madelung deformity, cubitus valgus, bowing and shortening of the forearm, dislocation of the ulna (at the elbow), and the appearance of muscular hypertrophy. Radiological characteristics suggestive of SHOX deficiency are triangularisation of the distal radial epiphysis, an enlarged diaphysis of the radius plus bowing of the radius, the convexity of the distal radial metaphysis, short fourth and fifth metacarpals, pyramidalization of the carpal row. Treatment with rGH is approved for children with SHOX gene deficiency and short stature. This kindred is an example that familial short stature, idiopathic short stature, and short stature due to a small gestational age are not final diagnoses. Complex investigations are necessary to identify the precise cause, leading to optimal clinical management. Treatment with rGH is an option for some of them; for others, it has no therapeutic response and, in some cases, is even harmful. MDPI 2022-12-29 /pmc/articles/PMC9818503/ /pubmed/36611397 http://dx.doi.org/10.3390/diagnostics13010105 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Ungureanu, Maria-Christina
Hrisca, Anamaria
Caba, Lavinia
Teodoriu, Laura
Bilha, Stefana
Preda, Cristina
Leustean, Letitia
SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report
title SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report
title_full SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report
title_fullStr SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report
title_full_unstemmed SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report
title_short SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report
title_sort shox deletion and idiopathic short stature: what does the clinician need to know? case series report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9818503/
https://www.ncbi.nlm.nih.gov/pubmed/36611397
http://dx.doi.org/10.3390/diagnostics13010105
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