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Rigshospitalet - a part of Copenhagen University Hospital
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Prevalence of SHOX Haploinsufficiency among Short Statured Children

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BACKGROUND: The 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.

METHODS: 574 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.

RESULTS: Thirty-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 nine out of 542 (1.7%). The nine children had decreased height -2.85 (0.6) 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 one year of GH treatment.

CONCLUSION: The prevalence of SHOX haploinsufficiency was 1.7%. The clinical findings indicating SHOX haploinsufficiency among the nine children were disproportionate short stature and forearm anomalies.

Original languageEnglish
JournalPediatric Research
Volume81
Issue number2
Pages (from-to)335-341
Number of pages6
ISSN0031-3998
DOIs
Publication statusPublished - 2017

ID: 49277424