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Genomics Precision Diagnostic > Endocrinology > Short Stature Precision Panel

Short Stature 

Short stature is the common term applied to a child whose height is 2 standard deviations or more below the mean for children of that sex and age. Although short stature can be a variant of normal growth, it can also be caused by a disease. 
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Short stature is the common term applied to a child whose height is 2 standard deviations or more below the mean for children of that sex and age. Although short stature can be a variant of normal growth, it can also be caused by a disease. Typically, 80% or more of the variation in height can be explained by genetic factors; however, environmental factors also play a pivotal role. The most common causes of short stature beyond the first two years of life are familial (genetic) short stature and constitutional short stature, which are normal non-pathologic variants of growth. In these cases, patients show normal results for endocrine screening tests, including those for growth hormone deficiency.  

  • The Igenomix Short Stature Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of short stature, in order to tell this phenotype from other real and syndromic diseases and find a possible treatment if needed. It provides a comprehensive analysis of the genes involved in this condition using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Short Stature Precision Panel is indicated for those patients presenting a height below the 2.3rd percentile (2 standard deviations or more below the mean height from individuals of the same sex and age). It can be a useful tool to perform a differential diagnosis of idiopathic short stature and associated disorders, and dismiss possible syndromes. 

Clinical Utility

The clinical utility of this panel is: 

  • The genetic and molecular confirmation for an accurate clinical diagnosis of a patient presenting short stature.  
  • Early initiation of multidisciplinary treatment including growth hormone supplying in case the patient proves to suffer a chronic GH deficiency. Occupational therapy might be needed in case short stature is a symptom of a specific syndrome. Either way, medical care depends on the etiology of the short stature.
  • Risk assessment and genetic counselling of other family members according to the possible causes of this condition. 
  • Improvement of delineation of genotype-phenotype correlation. 

Genes & Diseases

Methodology

References

See scientific referrals

Grimberg, A., Kutikov, J. K., & Cucchiara, A. J. (2005). Sex differences in patients referred for evaluation of poor growth. The Journal of pediatrics, 146(2), 212–216. https://doi.org/10.1016/j.jpeds.2004.09.009 

Grimberg, A., Huerta-Saenz, L., Grundmeier, R., Ramos, M. J., Pati, S., Cucchiara, A. J., & Stallings, V. A. (2015). Gender Bias in U.S. Pediatric Growth Hormone Treatment. Scientific reports, 5, 11099. https://doi.org/10.1038/srep11099 

Kerrigan, J. R., & Rogol, A. D. (1992). The impact of gonadal steroid hormone action on growth hormone secretion during childhood and adolescence. Endocrine reviews, 13(2), 281–298. https://doi.org/10.1210/edrv-13-2-281 

Tanner, J. M., & Davies, P. S. (1985). Clinical longitudinal standards for height and height velocity for North American children. The Journal of pediatrics, 107(3), 317–329. https://doi.org/10.1016/s0022-3476(85)80501-1 

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