- Author: Sunil Sinha, MD; Chief Editor: Stephen Kemp, MD, PhD more...
Longitudinal growth assessment is essential in child care. Short stature can be promptly recognized only with accurate measurements of growth and critical analysis of growth data.
Short stature, optimally defined relative to the genetic endowment of the individual, is recognized by comparing an individual child’s height with that of a large population of a similar genetic background and, more particularly, using the mid-parental target height (see History). Adult height is largely genetically predetermined; typically, 80% or more of the variation in height can be explained by genetic factors, although environmental factors also play a pivotal role.
Growth failure (GF) is often confused with short stature. By definition, GF is a pathologic state of abnormally low growth rate over time, whereas short stature is often a normal variant. Regardless of the genetic background, short stature may be a sign of a wide variety of pathologic conditions or inherited disorders. Thus, accurate longitudinal growth assessment is a fundamental aspect of health maintenance in children. Reviewing the patient's growth chart is critical to evaluating short stature. Deviation from a prior growth pattern appropriate for the genetic background often heralds new pathology. In addition, analysis of the prior growth pattern helps distinguish normal growth from pathologic variants of short stature.
Compared with a well-nourished, genetically relevant population, short stature is defined as a standing height more than 2 standard deviations (SDs) below the mean (or below the 2.5 percentile) for sex. Skeletal maturation is typically determined by the bone age, which is assessed using anteroposterior radiography of the left hand and wrist. Sex-specific reference data for standing height, head circumference, and weight have been published for most developed countries, most ethnic subpopulations (including Asians and blacks), and the most common genetic disorders (eg, Down syndrome, Ullrich-Turner syndrome, achondroplasia).
The causes of short stature can be divided into 3 broad categories: chronic disease (including undernutrition genetic disorders), familial short stature, and constitutional delay of growth and development. Endocrine diseases are rare causes of short stature (see Frequency). The hallmark of endocrine disease is linear GF that occurs to a greater degree than weight loss. Most short children evaluated by clinicians in developed countries have familial short stature, constitutional growth delay, or both. Short stature and constitutional growth delay are diagnoses of exclusion.
The hallmarks of familial short stature (also referred to as genetic short stature) include bone age appropriate for chronologic age, normal growth velocity, and predicted adult height appropriate to the familial pattern (using the Bayley-Pinneau or Tanner-Goldstein-Whitehouse tables). By contrast, constitutional growth delay is characterized by delayed bone age, normal growth velocity, and predicted adult height appropriate to the familial pattern (see image below).
Patients with constitutional growth delay typically have a first-degree or second-degree relative with constitutional growth delay (eg, menarche reached when older than 15 y, adult height attained in male relatives when older than 18 y).
Short stature may be normal. Obtaining the family history of growth patterns and direct measurement of the parents is crucial to determine the genetic potential for growth in the child.
Short stature can also be the sign of a wide variety of pathologic conditions or inherited disorders when it results from GF or premature closure of the epiphysial growth plates. Therefore, pathophysiology depends on the underlying cause. For detailed discussions of the disorders included in the differential diagnoses of short stature, see Differentials.
By definition, 2.5% of the population is short. However, the number of children with poor linear growth is higher given the frequency of chronic diseases of childhood. The Utah Growth Study is the largest population-based survey of growth in children published to date. These investigators assessed height and growth velocity in nearly 115,000 American children. Among the 555 children with short stature (defined as height below the third percentile) and poor growth rate (defined as growth velocity < 5 cm annually), only 5% had an endocrine disorder. In addition, 48% of the children with growth hormone deficiency (GHD) or Turner syndrome (TS) in this large cohort had been undiagnosed or untreated.
Parents often suspect an endocrine disorder (eg, GHD) as the major cause of short stature in their child. In fact, the Utah Growth Study confirms that most (95%) children with poor growth (velocity < 5 cm/y) do not have an endocrine disorder.
Unfortunately, malnutrition remains the most common cause of GF worldwide. Supporting lay and professional efforts to reverse this preventable cause of short stature in besieged communities must be a high priority of all governments and health care professionals.
Normal variations in stature are often related to ethnic background. For example, tall for a Cambodian individual may be short for a Norwegian individual. However, the major causes of short stature (ie, malnutrition, recurrent illness, parasites) are not race specific.
Boys who are short are more likely to come to medical attention than girls who are short. Notwithstanding the legitimate debate regarding this ascertainment bias, boys do appear more likely to have idiopathic GHD or constitutional delay of growth and development. Ullrich-Turner syndrome (ie, TS) affects only females. The evaluation of a short female, or a female with primary amenorrhea, mandates a karyotype to exclude this disorder.
Individuals of any age can be affected.
Individuals with normal variant short stature have an excellent prognosis.
Treatment of patients with classic growth hormone deficiency (GHD) with rhGH can be expected to yield a height consistent with genetic potential, provided that therapy is initiated at least 5 years prior to the onset of puberty. Whether cotreatment with rhGH and a gonadotropin-releasing hormone analog (eg, leuprolide) to inhibit puberty results in greater adult height in patients with classic GHD remains controversial.
Treatment of hypothyroidism at least 5 years before the onset of puberty is essential to attain a height consistent with the genetic potential.
Any chronic illness can reduce the adult height achieved if treatment of the condition is initiated late.
A Japanese study, by Shimizu et al, indicated that short stature in middle-aged men places them at an inflammatory disadvantage. The study, which involved 3016 men aged 30-59 years, found height to be inversely proportional to white blood cell count, particularly in men with a body mass index of 23 kg/m2 or above.
A study by Quitmann et al indicated that children and adolescents with current short stature are more likely to have internalizing problems and a lower self- and parent-reported health-related quality of life than do those who have previously been diagnosed with short stature but who have reached a height greater than -2SDs by the time of evaluation.
Superb resources prepared by health care professionals for lay audiences include the following:
In addition, the following are examples of informative Web sites for specific diseases that bring parents and researchers together in the ongoing effort to improve care:
For patient education resources, see the Growth Hormone Deficiency Center, as well as Short Stature in Children, Growth Hormone Deficiency, Growth Failure in Children, Understanding Growth Hormone Deficiency Medications, and Growth Hormone Deficiency FAQs.
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