Clinical Examination and Evaluation of Short Stature
The evaluation of short stature begins by differentiating isolated short stature from short stature with associated abnormalities, followed by determining whether the short stature is proportionate or disproportionate, then proceeding with targeted laboratory and radiologic testing based on these initial findings. 1
Initial Clinical Assessment
History Taking
Document birth parameters (weight, length, head circumference) to identify intrauterine growth restriction, which suggests prenatal-onset etiologies distinct from postnatal growth failure 2. Failure to demonstrate catch-up growth by age 2 years in small-for-gestational-age infants warrants genetic evaluation 2.
Calculate midparental height using the formula: (mother's height + father's height ± 13 cm)/2 (add 13 cm for boys, subtract for girls) to assess genetic growth potential 2, 3. Compare the child's projected adult height against this target.
Obtain detailed parental growth history, including timing of puberty, as constitutional delay and familial short stature demonstrate familial patterns 2, 4.
Review systems comprehensively for chronic diseases affecting growth: pulmonary conditions, renal disease, gastrointestinal disorders (particularly celiac disease and inflammatory bowel disease), and endocrinopathies 4, 5.
Physical Examination
Measure body proportions using sitting height-to-standing height ratio to distinguish proportionate from disproportionate short stature 2, 1. Disproportionate short stature suggests skeletal dysplasias requiring different evaluation pathways.
Document dysmorphic features systematically: facial characteristics, limb abnormalities, webbed neck, shield chest, and any major or minor malformations 2, 1. These findings suggest chromosomal abnormalities (particularly Turner syndrome in girls) or recognizable genetic syndromes 4.
Assess developmental status including cognitive and motor milestones, as delays combined with short stature increase likelihood of genetic syndromes 4.
Radiologic Evaluation
Bone Age Assessment (First-Line)
Obtain left wrist and hand radiograph in all children with pathologic short stature to determine skeletal maturation and remaining growth potential 6, 1. This single radiograph is compared to standardized atlases and is fundamental to the diagnostic algorithm.
Delayed bone age with normal growth velocity indicates constitutional delay of growth and puberty, a benign condition 6, 1.
Normal bone age with short stature and normal growth velocity suggests familial short stature, another normal variant 6, 1.
Significantly delayed bone age prompts evaluation for growth hormone deficiency or hypothyroidism 6.
Skeletal Survey (When Indicated)
Perform complete skeletal survey when physical examination reveals disproportionate body proportions to identify skeletal dysplasias 6, 1. Radiographic findings such as short forearms or Madelung deformity suggest SHOX gene mutations 6.
Laboratory Testing
Initial Screening
Order basic screening laboratories: complete blood count, comprehensive metabolic panel, and thyroid function tests to exclude hypothyroidism and chronic systemic diseases 2.
Genetic Testing
Obtain karyotype analysis in all girls with unexplained short stature to rule out Turner syndrome, which represents 19% of pathologic diagnoses in genetic evaluations 4, 1. Turner syndrome is the most common pathologic diagnosis and a critical pitfall if missed 1.
Consider chromosomal microarray when dysmorphic features are present or when karyotype is normal but clinical suspicion remains high 1.
Perform SHOX gene testing when clinical or radiographic findings suggest dyschondrosteosis or mesomelic limb shortening 1, 6.
Endocrine Testing
Pursue growth hormone stimulation testing when there is severe growth velocity deceleration, clinical features suggesting growth hormone deficiency (such as hypoglycemia, micropenis in males, or midline facial defects), or significantly delayed bone age without alternative explanation 2, 7.
Evaluate for combined pituitary hormone deficiencies if suggestive clinical features are present 2.
Diagnostic Algorithm by Category
Proportionate Short Stature Without Dysmorphic Features
- Obtain bone age first 6
- If delayed bone age: evaluate for growth hormone deficiency, hypothyroidism 6
- If normal bone age with normal growth velocity: likely familial short stature 1
- Screen for chronic diseases with basic laboratories 2
Proportionate Short Stature With Dysmorphic Features
- Obtain karyotype (mandatory in girls) 1
- Consider chromosomal microarray 1
- Evaluate for recognizable genetic syndromes 4
Disproportionate Short Stature
- Perform complete skeletal survey 6, 1
- Consider SHOX gene testing if mesomelic shortening present 6
- Refer to genetics for skeletal dysplasia evaluation 1
Critical Pitfalls to Avoid
Failing to obtain bone age before initiating testosterone or growth hormone therapy risks premature epiphyseal closure and compromised final adult height 6.
Missing Turner syndrome in girls by not obtaining karyotype analysis, despite it being the most common pathologic diagnosis 1, 4.
Overlooking disproportionate short stature by not performing careful body proportion measurements leads to delayed diagnosis of skeletal dysplasia 6.
Misclassifying normal variants (constitutional delay, familial short stature) as pathologic conditions leads to unnecessary testing and inappropriate treatment 1.
Indications for Specialist Referral
Refer to pediatric endocrinology when: severe growth velocity deceleration occurs, dysmorphic features or disproportionate short stature are present, or idiopathic short stature requires consideration of growth hormone therapy 1.