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".)To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Grimberg A, Kutikov JK, Cucchiara AJ. Sex differences in patients referred for evaluation of poor growth. J Pediatr 2005; 146:212.
- August, GP, Lippe, BM, Blethen, SL. et al. Growth hormone treatment in the United States demographic and diagnostic features of 2331 children. In: National cooperative growth study (NCGS) advisory group, Growth Hormone: Science, Research, and the NCGS: 10 years of research, Gardiner-Caldwell SynerMedCalifon, NJ, 1996. p. 179.
- Chatelain P. Trends in the diagnosis and treatment of short stature as revealed by KIGS. In: Growth Hormone Therapy in KIGS: 10 Years' Experience, Ranke, MB, Wilton, P (Eds), Johann Ambrosius Barth Verlag, Heidelberg, 1999. p. 11.
- Grimberg A, Feemster KA, Pati S, et al. Medically underserved girls receive less evaluation for short stature. Pediatrics 2011; 127:696.
- Karlberg J. A biologically-oriented mathematical model (ICP) for human growth. Acta Paediatr Scand Suppl 1989; 350:70.
- HEALY MJ, LOCKHART RD, MACKENZIE JD, et al. Aberdeen growth study. I. The prediction of adult body measurements from measurements taken each year from birth to 5 years. Arch Dis Child 1956; 31:372.
- Kerrigan JR, Rogol AD. The impact of gonadal steroid hormone action on growth hormone secretion during childhood and adolescence. Endocr Rev 1992; 13:281.
- Tanner JM, Davies PS. Clinical longitudinal standards for height and height velocity for North American children. J Pediatr 1985; 107:317.
- Cohen P, Rogol AD, Deal CL, et al. Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. J Clin Endocrinol Metab 2008; 93:4210.
- Tanner JM, Goldstein H, Whitehouse RH. Standards for children's height at ages 2-9 years allowing for heights of parents. Arch Dis Child 1970; 45:755.
- Greulich WW, Pyle SI. Radiographic atlas of skeletal development of the hand and wrist, Stanford University Press, Stanford 1976.
- Tanner JM, Whitehouse RH, Cameron N, et al. Assessment of Skeletal Maturity and Prediction of Adult Height (TW2 Method), Academic Press, London 1983.
- BAYLEY N, PINNEAU SR. Tables for predicting adult height from skeletal age: revised for use with the Greulich-Pyle hand standards. J Pediatr 1952; 40:423.
- Roemmich JN, Blizzard RM, Peddada SD, et al. Longitudinal assessment of hormonal and physical alterations during normal puberty in boys. IV: Predictions of adult height by the Bayley-Pinneau, Roche-Wainer-Thissen, and Tanner-Whitehouse methods compared. Am J Hum Biol 1997; 9:371.
- Topor LS, Feldman HA, Bauchner H, Cohen LE. Variation in methods of predicting adult height for children with idiopathic short stature. Pediatrics 2010; 126:938.
- Sisley S, Trujillo MV, Khoury J, Backeljauw P. Low incidence of pathology detection and high cost of screening in the evaluation of asymptomatic short children. J Pediatr 2013; 163:1045.
- 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
- SOCIETY GUIDELINE LINKS
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS