Diagnostic approach to children and adolescents with short stature
- Alan D Rogol, MD, PhD
Alan D Rogol, MD, PhD
- Professor Emeritus
- University of Virginia
Short stature is defined as a height that is 2 standard deviations (SD) or more below the mean height for individuals of the same sex and chronologic age in a given population. This translates to a height that is below the 2.3rd percentile.
The most common causes of short stature beyond the first year or two of life are familial (genetic) short stature and constitutional short stature (also known as constitutional delay of growth and puberty), which are normal nonpathologic variants of growth (see "Causes of short stature", section on 'Normal variants of growth'). The goal of the evaluation of a child with short stature is to identify the subset of children with pathologic causes, such as Turner syndrome, inflammatory bowel disease or other underlying systemic disease, or hormonal abnormality. The evaluation also assesses the severity of the short stature and likely growth trajectory, to facilitate decisions about intervention, if appropriate. Some components of the evaluation can reasonably be performed in the primary care setting, including initial interpretation of the growth chart and growth potential (based on measured heights of the child's parents), calculation of height velocity (HV), initial laboratory screening for an underlying systemic or endocrine disease, if suspected based on symptoms. If HV is slow, then bone age determination should be performed if expert interpretation is available. Other components of the evaluation, including review of the bone age results and the detailed evaluation for causes of short stature, are typically performed by a pediatric endocrinologist, if available.
Referral patterns reveal substantial sex differences in the evaluation and treatment of short stature [1-4]. Boys are referred for evaluation more often, at younger ages and for less severe height deficits as compared with girls. As an example, in one retrospective review of 288 children referred to a single center for assessment of short stature, the male:female ratio was 1.9:1 . At the time of referral, the height deficit was significantly greater for girls than boys (median height Z-score, -2.4 versus -1.9), and organic disease was more common among girls (40 versus 15 percent). Similarly, studies of growth hormone registries have shown preferential treatment of boys compared with girls with an approximate ratio of 2:1 [2,3].
This apparent gender bias may be due to under-appreciation of growth problems in girls, leading to fewer evaluations of girls for short stature. Alternatively, it may be due to increased societal pressure for tall stature in boys, leading to increased referral and growth hormone treatment of boys without organic causes of short stature. These findings emphasize the need for accurate growth monitoring during the health care maintenance of all children to ensure appropriate referral and treatment.
This topic will review the diagnostic approach to children with short stature, beginning with a brief review of normal growth and development. The causes of short stature are discussed separately. (See "Causes of short stature".)
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- NORMAL GROWTH
- EVALUATION OF GROWTH
- Is the child short?
- Is the child's height velocity impaired?
- Prediction of adult height
- - Is the child’s growth within the range for the family?
- - Is there evidence of delayed or accelerated growth?
- Bone age determination
- ADDITIONAL EVALUATION FOR CAUSES OF SHORT STATURE
- Are there features that suggest that this is a normal variant of short stature?
- Are there features suggesting pathologic growth failure?
- - Features suggesting underlying systemic disease
- - Features suggesting genetic or endocrine disease
- LABORATORY AND IMAGING STUDIES
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS