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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

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