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 |