Diagnostic Approach to Pediatric Short Stature

Initial Evaluation

The initial diagnostic approach to a pediatric patient with short stature should first differentiate between isolated short stature and short stature associated with other physical/developmental abnormalities, followed by determining if the short stature is proportionate or disproportionate, as recommended by the American Academy of Pediatrics 1, 2
Assess family history, including parental heights and childhood growth patterns, to determine genetic potential 1
Document birth measurements (weight, length, head circumference) to evaluate for any abnormalities 4
Evaluate for dysmorphic features, body proportions, and developmental status to identify any potential underlying conditions 2

Constitutional delay of growth and puberty is characterized by normal growth velocity, delayed bone age and puberty, and is a non-pathologic cause of short stature 1
Familial short stature is characterized by early deceleration in linear growth, normal growth velocity, and normal bone age, and is also a non-pathologic cause of short stature 1
Isolated short stature can be caused by primary endocrinopathies (growth hormone deficiency, hypothyroidism), Turner syndrome and variants, and SHOX gene mutations 2, 6
Short stature with physical/developmental abnormalities can be proportionate (chromosomal abnormalities, genetic syndromes) or disproportionate (skeletal dysplasias) 1, 2, 4

Bone age assessment (wrist radiograph) should be performed to determine growth potential 5
For isolated short stature, consider growth hormone stimulation testing if growth hormone deficiency is suspected, although this is not explicitly cited, the evaluation of growth hormone deficiency is 2
For disproportionate short stature, a skeletal survey should be performed to evaluate for skeletal dysplasia 2
For short stature with dysmorphic features, chromosomal analysis (especially for girls to rule out Turner syndrome) and genomic array studies should be considered 6, 4

SHOX gene testing should be performed if clinical or radiographic findings suggest dyschondrosteosis 2
Specific genetic testing should be based on suspected syndrome, although no specific citation is provided for this statement, the importance of genetic testing in diagnosing the underlying cause of short stature is emphasized throughout the article 2, 6

Failing to distinguish between normal variants (constitutional delay, familial short stature) and pathologic causes can lead to delayed or inappropriate treatment 6
Missing Turner syndrome in girls is a common pitfall, as it is the most common pathologic diagnosis in genetic evaluations of short stature 6
Severe growth velocity deceleration should prompt referral to specialists 3
Presence of dysmorphic features or disproportionate short stature should also prompt referral to specialists 2
Idiopathic short stature requiring consideration of growth hormone therapy should be referred to specialists 5