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Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature

Elizabeth S Sandberg1, Ali S Calikoglu1, Karen J Loechner2

  • 1Division of Endocrinology, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Case Reports in Endocrinology
|September 27, 2017
PubMed

Insights

Short stature homeobox-containing (SHOX) gene deficiency is common in children. A novel SHOX gene mutation caused short stature in seven siblings, who showed improved height after growth hormone therapy.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Short stature homeobox-containing (SHOX) gene deficiency is a significant cause of short stature in children, affecting 2-15% of cases.
  • SHOX gene mutations lead to various skeletal dysplasias, including Leri-Weill dyschondrosteosis.

Observation:

  • A 3-year-old male presented with short stature (height SDS -2.98) and disproportionately short arm span.
  • Significant familial history of short stature prompted genetic investigation.
  • Physical examination revealed characteristic features suggestive of SHOX deficiency.

Findings:

  • A novel point mutation (c.582) in the SHOX gene was identified in seven siblings, leading to haploinsufficiency.
  • The mutation is predicted to cause premature termination of the SHOX protein.
  • All affected siblings demonstrated improved height standard deviation scores after initiating growth hormone therapy.

Implications:

  • This study highlights a novel mutation causing SHOX gene deficiency and short stature.
  • Early diagnosis and growth hormone treatment can significantly improve growth outcomes in affected children.
  • Genetic analysis is crucial for identifying the underlying cause of familial short stature.

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