ArticlePediatric research2017
Prevalence of SHOX haploinsufficiency among short statured children.
Article in Pediatric research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Systematic or targeted molecular screening of SHOX gene variations in children with idiopathic short stature?Journal of the Endocrine Society · 2026Article
- Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.Frontiers in endocrinology · 2026Article
- Efficacy and Safety of Growth Hormone (GH) Therapy in Patients with SHOX Gene Variants.Children (Basel, Switzerland) · 2025Review
- Article
- Clinical Indications for Growth Hormone Therapy.Advances in pediatrics · 2022Review
- Detection ofJournal of clinical research in pediatric endocrinology · 2020Article
- Glucose Metabolism in Turner Syndrome.Frontiers in endocrinology · 2019Review
- SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.European journal of human genetics : EJHG · 2018Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe aim of this clinical study was to determine the prevalence of SHOX haploinsufficiency in a population of short stature patients and describe their anthropometric measurements.
methods574 short statured patients were evaluated in a single center (1992-2015). SHOX copy number was detected by quantitative polymerase chain reaction (qPCR) in 574 subjects, followed by multiplex ligation-dependent probe amplification (MLPA) and DNA sequencing in subjects with SHOX haploinsufficiency. We evaluated anthropometric measurements at birth, and at first examination. Skeletal abnormalities were recorded for patients with SHOX haploinsufficiency.
resultsThirty-two patients were excluded due to Turner syndrome (n = 28), SRY-positive 46,XX male karyotype (n = 1), or lacked clinical follow-up information (n = 3). The prevalence of SHOX haploinsufficiency was 9 out of 542 (1.7%). The nine children had decreased height -2.85 (0.6) SD scores (SDS) (mean (SD)) and weight -2.15 (1.36) SDS, P < 0.001 and P = 0.001, respectively. The sitting height/height ratio was increased, P = 0.04. Madelung deformity was diagnosed in three patients. Mean height was -2.9 (0.4) SDS at baseline and increased by 0.25 (0.2) SDS, P = 0.046, after 1 y of growth hormone (GH) treatment.
conclusionThe prevalence of SHOX haploinsufficiency was 1.7%. The clinical findings indicating SHOX haploinsufficiency among the nine children were disproportionate short stature and forearm anomalies.
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