eMedicine Specialties > Pediatrics: General Medicine > Endocrinology

Short Stature

Author: Robert J Ferry Jr, MD,, Chief, Division of Pediatric Endocrinology and Metabolism, Le Bonheur Children's Medical Center, University of Tennessee Health Science Center at Memphis, and St. Jude Children's Research Hospital; Brigade Surgeon, 36th Sustainment Brigade, 13th Expeditionary Sustainment Command, U.S. Army
Contributor Information and Disclosures

Updated: Aug 4, 2009

Introduction

Background

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).

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.¹ 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 (see References), 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).

Pathophysiology

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.

Frequency

United States

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.² 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.

International

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.

Race

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.

Sex

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.

Age

Individuals of any age can be affected.

Clinical

History

• Key data to obtain for the evaluation of short stature include the child's weight and length at birth; prior growth pattern; and the final (or current) heights and weights of parents, siblings, and grandparents.
  • Whenever possible, obtain the original birth records to document length, weight, and fronto-occipital circumference at birth.
  • Assessing the heights of both parents is absolutely essential.
  • Generally, men overreport their height, and women underreport their weight.
  • Ideally, measure each parent’s height in the clinic for optimal calculation of the mid-parental target height, according to 1 of several formulas, among which the author prefers the following:
    
    Target height in cm for a girl = [mother's height in cm + (father's height in cm - 13)]/2
    
    Target height in cm for a boy = [(mother's height in cm + 13) + father's height in cm)]/2
• Document pubertal timing in first-degree relatives.
  • At a minimum, determine the age at onset of menarche for the child's mother and the age of adult height attainment for the father.
  • Most parents can usually recall these 2 milestones, which have proven reliable predictors of pubertal timing and tempo in parent-child pair studies of puberty. 
• Review of symptoms by organ system provides additional clues to the etiology underlying short stature.
  • GI
  • Diarrhea, flatulence, or borborygmi (frequent, discomforting, or even audible peristalsis) suggest malabsorption.
  • Vomiting can suggest an eating disorder or a CNS disorder (eg, dysgerminoma).
  • Consider dietary intake and composition. In particular, ask about intake of carbonated beverages, juices, and other casual intake.
  • Pain or abdominal discomfort suggests inflammatory bowel diseases.
• Cardiac disease: Signs include peripheral edema, murmurs, and cyanosis.
• Chronic infections: Poor wound healing and opportunistic infections are signs of potential immune deficiency.
• Pulmonary
  • Sleep apnea can be a cryptic cause of short stature.
  • Other chronic diseases that may result in short stature include severe asthma associated with chronic steroid use and cystic fibrosis (CF).
• Neurologic
  • Visual field deficits often herald pituitary neoplasms.
  • Vomiting, early morning nausea, polyuria, or polydipsia is often associated with masses of the CNS.
• Renal

• Polyuria and polydipsia are important symptoms of hypothalamic and pituitary disorders.
• Chronic renal disease is a common cause of growth failure (GF).
• Social

• Participation in sports that require weight control (eg, wrestling, crew, gymnastics) may be associated with anorexia nervosa or bulimia induced by the patient, peers, or coaches.
• Growth is often impaired in refugees and in children emerging from foster care or certain international adoption settings.
• The growth pattern with adequate nutrition in a loving environment over time is critical to distinguish pathologic GF from normal variant short stature in such patients.

Physical

Endocrinologists rely heavily on accurate and reliable height assessment.

• Measure standing height in triplicate using a calibrated wall-mounted stadiometer.
  • Although no particular brand is endorsed, one well-accepted device is available from Harpenden Ltd of Wales (see image below).
  • 
    

    

    Proper use of a wall-mounted stadiometer.

    [ CLOSE WINDOW ]

    

    Proper use of a wall-mounted stadiometer.

  • In infants, length is determined in triplicate using a tabletop recumbent stadiometer.
  • The mean value of the triplicate data serves as the true measurement.
• In children who cannot completely stand or recline (eg, those with spina bifida, those with contractures), arm span provides a reliable alternative for longitudinal assessment of long bone growth.
  • Ascertain arm span by facing the child against a flat firm surface (usually the wall), fully extending the arms, and measuring the maximal distance between the tips of the middle fingers.
  • If this positioning is physically impossible, a flexible tape measure may be rolled along the dorsal aspect of the arms and upper back to determine arm span.
• Documenting growth velocity over time complements the initial height assessment.
  • Calculate growth velocity as the change in standing height over at least 6 months (in children) or in length over at least 4 months (in infants).
  • Poor linear growth is defined as linear growth velocity more than 2 SDs below the mean for gender, genetic composition, and chronologic age.
• Weigh all patients.
• In infants, determine the fronto-occipital circumference.
• In patients in whom short-limb dwarfism is suspected, the sitting height can be obtained by measuring the upper body segment, or crown to pelvis, as the child sits upright on a platform-mounted stadiometer (or on the floor with a wall-mounted stadiometer).
  • Alternatively, the lower segment can be determined by measuring from the superior midline brim of the symphysis pubis to the floor, with the child standing (feet placed together).
  • The upper-to-lower segment ratio (US/LS) should be close to 1.
  • The ratio is more than 1 in children with shortened limbs, as it is in individuals with hypochondroplasia or achondroplasia.
• Palpate for thyroid enlargement and firmness, which can be associated with Hashimoto thyroiditis, the most common cause of acquired hypothyroidism.
• Test visual fields for signs of pituitary and hypothalamic tumors, initially by gross confrontation.
• Inspect fourth metacarpals, which are shortened in persons with pseudohypoparathyroidism, Ullrich-Turner syndrome, and Albright hereditary osteodystrophy.
• Inspect mucous membranes for ulcerative stomatitis, typical of Crohn disease and various trace mineral and vitamin deficiencies.
  • Pretibial ulcerations are also observed in persons with Crohn disease and ulcerative colitis.
  • Rectal tags and clubbing are also typical in individuals with Crohn disease.
• Confirm the history with direct measurements whenever possible. For example, measure both biologic parents' heights during the clinic visit.
• Both the arm span and US/LS ratio can be informative regarding the cause of short stature. Patients with short-limb dwarfism usually have an US/LS ratio that remains above 1.3. Newborns typically display a ratio of 1.7, which gradually drops to approximately 1 during prepubertal growth and remains close to 1 in adulthood.
• Arm span also reveals a decrement in growth, which is otherwise indiscernible in a child with spinal deformation (eg, myelomeningocele).
• Carefully examine the midface.
  • A single, central, maxillary incisor reflects a defect in midline facial development.
  • Similarly, a bifid uvula suggests the possibility of a submandibular cleft palate, which may be palpable, yet not visible on inspection.
  • Associated anomalies of midline structures, such as the pituitary gland, are common in patients with major midline facial anomalies.
  • Growth hormone deficiency (GHD) or panhypopituitarism should be considered as a cause of short stature in such patients.

Causes

• The nonendocrine causes of short stature (see Other Problems to be Considered) can be divided into 3 major categories, as follows:
  • Constitutional delay of growth and sexual development
  • Familial short stature
  • Chronic diseases of childhood: Among the chronic conditions, malnutrition remains the leading cause of short stature worldwide.
• Genetic causes of short stature are as follows:
  
  
  • Down syndrome (trisomy 21)
  • Ullrich-Turner syndrome (45,XO)
  • Lerí-Weill dyschondrosteosis (SHOX gene)

• Search for CME/CE on This Topic »

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