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, which can be identified through a diagnostic approach that differentiates between isolated short stature and short stature associated with other physical and/or developmental abnormalities 1
Diagnostic Approach
A diagnostic approach to short stature should consider factors such as genetic potential for growth, rate of growth, and pattern of growth, and should include 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
- Secondary factors, such as chronic medical or endocrine disorders 2
- Genetic causes, which are becoming increasingly important in the understanding of short stature 3, 4
- Intrauterine growth retardation (IUGR) 5
- Skeletal dysplasia 5
- Normal variant of short stature 5
- Psychosocial deprivation 5
- Endocrinological causes, such as growth hormone deficiency (GHD) and hypothyroidism 5
Genetic Causes of Short Stature
Genetic causes of short stature are probably misdiagnosed during clinical practice, and the underlying cause of short stature frequently remains unknown, thus classifying children as having idiopathic short stature (ISS) 3. However, advances in molecular genetics have led to the discovery of novel genes associated with linear growth, allowing for the re-classification of approximately 25-40% of children previously diagnosed with ISS 3.
Investigation of Short Stature
Investigations for children with growth failure are required to distinguish between idiopathic short stature, primary causes of short stature, and secondary growth deficits due to endocrine or other chronic disorders 6. Accurate measurement and analysis of growth parameters are essential to avoid unnecessary investigations 5.