From the Guidelines
The primary etiologies of short stature are familial short stature, constitutional delay of growth, and pathologic conditions such as endocrinopathies, genetic disorders, and occult diseases.
Etiologies of Short Stature
- Familial short stature: characterized by early deceleration in linear growth, normal or near-normal growth velocity in childhood, normal bone age and pubertal development, and short adult height appropriate for the target height 1
- Constitutional delay of growth: suggested by deceleration of length/height in the first 3 years of life, normal or near-normal height velocity during childhood, delayed bone age and pubertal development, and final adult height within the normal range 1
- Pathologic conditions: including endocrinopathies, genetic disorders, and occult diseases such as Turner syndrome, chromosome abnormalities, and recognized multiple malformation syndromes 1
Evaluation of Short Stature
A diagnostic approach to short stature involves differentiating between isolated short stature and short stature associated with other physical and/or developmental abnormalities, and then between proportionate and disproportionate short stature 1. The evaluation of short stature should consider genetic potential for growth, rate of growth, and pattern of growth, as well as a careful physical examination with measurements to determine whether there is a disproportionate body habitus 1.
From the Research
Primary Etiologies of Short Stature
The primary etiologies of short stature can be categorized into several groups, including:
- Primary growth disorders, such as bone disease or chromosomal syndrome 2, 3
- Secondary factors, such as chronic medical or endocrine disorders 2, 3
- Genetic causes, including monogenic disorders that lead to perturbations in growth and result in short stature 4, 5
- Idiopathic short stature, where no possible cause is identified 2, 3
- Intrauterine growth retardation (IUGR) 6
- Skeletal dysplasia 6
- Normal variant of short stature 6
- Psychosocial deprivation 6
Specific Causes of Short Stature
Some specific causes of short stature include:
- Growth hormone deficiency (GHD) 6
- Hypothyroidism 6
- Turner syndrome 6
- Achondroplasia 6
- Celiac disease 6
- Chronic pediatric diseases, such as diabetes or pulmonary or cardiac conditions 2
Evaluation and Management of Short Stature
The evaluation and management of short stature require a comprehensive approach, including: