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Table 1 Etiologies for short stature and common screening tests

From: Towards identification of molecular mechanisms of short stature

Etiology Screening tests
Genetic short stature  
Chromosomal aneuploidy, including Turner syndrome Karyotype in girls
Microdeletion or duplication  
Single gene disorders  
Polygenic  
Constitutional delay of growth and puberty  
Hormonal pathologies  
Growth hormone deficiency IGF-1, IGF BP-3
Hypothyroidism Thyroid function tests
Cushing syndrome  
Systemic diseases  
Inflammatory disease, e.g. IBD, JIA erythrocyte sedimentation rate
Celiac disease tissue transglutaminase antibodies
Renal disorders electrolytes, creatinine
Liver disorders liver function tests
Hematologic disorders complete blood count
Birth history of IUGR/SGA  
Medications