eMedicine Specialties > Pediatrics: General Medicine > Endocrinology

Short Stature

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; Field Surgeon (Medical Corps), 162nd Area Support Medical Company, Army National Guard

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 Media file 2).

Comparison of the growth patterns between idiopathic short stature and constitutional growth delay.

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

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 Media file 1).
    
    

    

    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)

Differential Diagnoses

Other Problems to Be Considered

Causes of growth failure in children (partial list)

• GI          
  • Protein or caloric deprivation
  • Inflammatory bowel disease -Crohn disease, ulcerative colitis
  • Cystic fibrosis (CF)
  • Sprue (gluten intolerance)
  • Protein-losing enteropathy
• Endocrine          
  • Hypothyroidism
  • Primary - Hashimoto thyroiditis, Pendred syndrome
    • Secondary - Thyrotropin (thyroid-stimulating hormone [TSH]) deficiency
    • Tertiary - Thyrotropin-releasing hormone (TRH) deficiency
    • Other - Iatrogenic or environmental radioablation, neoplasm
  • Growth hormone deficiency (GHD) complete absence or insufficiency (partial absence)
  • Neurosecretory GHD
  • Panhypopituitarism (combined anterior pituitary hormone deficiencies)
  • Growth hormone-releasing hormone (GHRH) deficiency
  • Poorly controlled type 1 diabetes mellitus - Mauriac syndrome
  • Chronic hypernatremia - Hypothalamic adipsia, poorly controlled diabetes insipidus
  • Hypercortisolism - Iatrogenic glucocorticoid administration, or Cushing syndrome
  • Hypocortisolism -DAX1 gene mutation, autoimmune adrenalitis (Addison disease); (Note that adrenocorticotropic hormone deficiency alone has been associated with tall stature; short stature results from hypocortisolism only in persons with salt wasting.)

Normal variant short stature (also called familial short stature)

• Genetic (known defect)          
  • Down syndrome (trisomy 21)
  • Silver-Russell syndrome
  • Hypochondroplasia
  • SHOX gene mutations
  • Turner syndrome
  • Leri-Weill dyschondrosteosis
  • Growth hormone (GH) receptor gene mutations (Laron syndrome)
  • IGF1 gene mutation
  • IGF1R gene mutation
  • PROP1 gene mutations
  • POU1F1 gene mutations
  • GHRH gene mutations
  • GH gene mutations
  • Insulin receptor gene mutations (leprechaunism)
• Genetic (unknown defect)          
  • Silver-Russell syndrome
  • Shwachman-Diamond syndrome
• Pulmonic          
  • CF
  • Severe asthma
  • Chronic obstructive pulmonary disease
  • Restrictive lung disease
• Cardiac          
  • Hypoxemia
  • Congestive heart failure
  • Low cardiac output states
  • Precocious puberty
• Renal          
  • Chronic renal insufficiency
  • Renal failure
  • Renal tubular acidosis
• Psychosocial dwarfism          
  • Chronic neglect
  • Starvation

Workup

Laboratory Studies

• Laboratory studies used to assess the major causes of short stature in children include the following:
  • Measurement of serum levels of insulinlike growth factor-I (IGF-I), formerly named somatomedin C, and IGF binding protein-3 (IGFBP-3)
    • These are useful tests for growth hormone deficiency (GHD), except in pubertal patients and those with history of a brain tumor.
    • Patients with certain CNS neoplasms may have normal serum growth factor levels despite having GHD, particularly during puberty.
    • Consider provocative tests of pituitary function in any patient with normal thyroid function suspected to be GH deficient.
    • Interpret a low serum IGF-I concentration cautiously because poor nutrition is associated with low serum IGF-I concentration.
    • The serum IGFBP-3 concentration has greater specificity than serum IGF-I concentration in the diagnosis of GHD.
  • Karyotype by G-banding
    • The 45,X pattern defines patients with Ullrich-Turner syndrome.
    • Because 10% of patients with Ullrich-Turner syndrome possess a mosaic karyotype (eg, 45,X; 46,XX), counting at least 30 cells reduces the possibility of failing to identify a patient with mosaic Turner syndrome (TS).
  • Measuring serum levels of GH
    • Beyond the first months of life, endogenous GH is secreted in a pulsatile fashion. These intermittent peaks are greatest after exercise, after meals (as blood glucose levels decrease), and during deep sleep. Therefore, measuring a single random serum GH value is of no use in the evaluation of the short child. Beyond the neonatal period, values obtained during the daytime are unlikely to be detectable.
    • Although a random serum GH value of more than 10 mg/dL generally excludes GHD, a random low serum GH concentration does not confirm the diagnosis of GHD.
• Other useful tests include the following:
  • CBC count for hematologic disease
  • Wintrobe sedimentation rate for inflammatory bowel disease
  • Antiendomysial immunoglobulin A (IgA) and immunoglobulin G (IgG), transglutaminase IgG, and antigliadin IgG titers for sprue (gluten enteropathy) (Antiendomysial IgA titers are more sensitive, and IgG titers are more specific.)
  • Serum total thyroxine (total T4) and thyrotropin (TSH) levels to test for hypothyroidism
    • Determination of serum free T4 concentration is necessary in patients in whom TSH deficiency, TRH deficiency, or thyroxine-binding globulin (TBG) deficiency is suspected.
    • Directly assay free T4 levels using equilibrium dialysis.
    • Many reference laboratories report a value termed the free thyroxine index, which is calculated by multiplying the total T4 by an internal standard; however, if free T4 assessment is needed, measure it directly.
  • Sweat chloride testing to exclude cystic fibrosis (CF): Consider this test in patients who are short and have a history of meconium ileus or pulmonary symptoms.
  • Serum transferrin and prealbumin concentrations for undernutrition

Imaging Studies

• Perform anteroposterior radiography of left hand and wrist to assess bone age (see Media file 3).
  
  

  

  Bone age comparison between an 8-year-old boy (left) and a 14-year-old adolescent boy (right).

  
  
• Chondrodysplasia of the distal radial epiphysis (Madelung deformity) suggests Lerí-Weill dyschondrosteosis.
• Perform renal and cardiac ultrasonography in all patients with Ullrich-Turner syndrome. The most commonly associated anomalies include horseshoe kidney and bicuspid aortic valve.

Other Tests

• Perform hearing tests in all patients with Ullrich-Turner syndrome.
• Use Bayley-Pinneau or Tanner-Goldstein-Whitehouse methods.
  
  
  • These methods are often used to predict final adult height and become more accurate with advancing bone age.
  • Within 5 years of epiphyseal closure, the predicted height may fall within ±5 cm of the final adult height, with 95% confidence.
  • The Bayley-Pinneau method can be used with a bone age as young as 6 years; however, the prediction is less accurate at the younger ages.

Procedures

• Several provocative tests have been developed for the evaluation of suspected GHD, including the following:
  • Insulin-induced hypoglycemia is the most powerful stimulus for GH secretion; however, this test also carries the greatest potential for harm and is the only GH provocative test that has been associated with fatalities.
  • Alternate GH secretagogues used successfully in combination as 2 serial tests include arginine, levodopa, propranolol with glucagon, exercise, clonidine, or epinephrine.
• Perform all GH provocative testing under the supervision of a pediatric endocrinologist.
• Please refer to Hyposomatotropism for further details of these tests.

Treatment

Medical Care

Medical care depends on the etiology of the short stature.

• Recombinant human growth hormone (rhGH) administration has not been proven to remarkably improve final adult height in children with normal variant short stature.^3,4
  • Nine inconclusive clinical studies that focused on this particular issue have been published to date.
  • Published studies were flawed because of  the following:
    • Selection bias due to high drop-out rates from treatment regimens (presumably due, in part, to the parents' or health care provider's dissatisfaction with results of therapy in these individuals)
    • Lack of key design elements for a proper clinical trial (eg, placebo controls, double blinding, randomization)
    • Inadequate follow-up study to final adult height
  • A recent study from the National Institutes of Health was double blinded randomly and suggests GH has a small effect on adult height in children with normal short stature if they are treated with GH injections for many years.
  • In the absence of better clinical outcomes, do not use rhGH therapy to treat children with normal variant short stature.

Surgical Care

• Surgical care depends on the underlying cause of short stature.
• Brain tumors that cause hyposomatotropism may require neurosurgical intervention, depending on the tumor type and location (see Hyposomatotropism).
• Limb-lengthening procedures have been performed but carry enormous morbidity and mortality risks and are not recommended.

Consultations

• Consult a pediatric cardiologist, radiologist, and audiologist for patients with Ullrich-Turner syndrome.
• Consult a psychologist for patients with eating disorders.
• Perform all GH provocative testing under the supervision of a pediatric endocrinologist.

Diet

• Optimize nutrition in patients with GI disease.
• Obtain psychologic or psychiatric consultation for patients with eating disorders.
• Forced energy intake in children with normal variant short stature has not been demonstrated to improve short-term growth or final adult height.

Activity

• Do not restrict activity in children with normal variant short stature.

Medication

Medication administered depends on the etiology of the short stature.

Growth Hormone

These agents improve symptoms associated with growth hormone deficiency (GHD).

Somatropin (Humatrope, Nutropin, Genotropin, Saizen)

hGH produced via recombinant DNA technology in Escherichia coli; widely available since 1985. Currently, only 1 of the 10 largest reported clinical studies has demonstrated that therapy can increase final adult height in patients with normal variant short stature. This most recent NIH-funded study was randomized, placebo controlled, and took place over 14 y. Investigators demonstrated average gain in height did not exceed 4 cm when rhGH treatment of normal variant short stature began prior to puberty and continued through completion of puberty. They did not identify any clinical feature that, prior to start of therapy, could predict whether an individual patient would respond to rhGH and to what degree. Whether several years of daily injections are worth the potential, but not promised, relatively small increase in final adult height remains a personal and individual decision involving the patient, patient's family, and physician.

Dosing

Adult

Pediatric

Regimens vary according to product and the indication
The following doses of recombinant human somatotropin analogs (Humatrope, Nutropin, Nutropin AQ, Saizen) have proven effective
Non-Laron IGFD: 0.05 mg/kg/d SC hs for prepubertal children, 0.1 mg/kg/d SC for pubertal females; 0.2 mg/kg/d SC for pubertal males
TS or chronic renal insufficiency: 0.08 mg/kg/d SC hs
Prader-Willi syndrome: 0.05 mg/kg/d SC

Interactions

Data limited; several studies suggest that GH may alter clearance of CYP450 substrates

Contraindications

Documented hypersensitivity; active neoplasm; critical illness related to respiratory failure (critical illness due to burns has not been established as contraindication); extreme obesity associated with Prader-Willi syndrome

Precautions

Pregnancy

C - Safety for use during pregnancy has not been established.

Precautions

Monitor linear growth and serum IGF-I levels at least every 6 months during therapy; antibodies may develop to protein contained in drug; monitor blood glucose levels and thyroid levels

Insulin-like growth factor-I

Indicated for long-term treatment of severe, primary insulin-like growth factor-I (IGF-I) due to mutations of the growth hormone receptor (GH-R) or GH-R downstream signaling pathways.

Mecasermin (Increlex)

Recombinant human insulinlike growth factor-1 (rhIGF-1) indicated for long-term treatment of GF in children with severe primary IGFD (primary IGFD defined as basal serum IGF-I level and height SD scores <-3, normal or elevated serum GH level). IGF-I is essential for normal growth of children's bones, cartilage, and organs by stimulating uptake of glucose, fatty acids, and amino acids into tissues. IGF-I is the principal hormone for linear growth and directly mediates GH actions. Primary IGFD is characterized by absent IGF-I production despite normal or elevated GH release.

Dosing

Adult

Contraindicated

Pediatric

<2 years: Not established
>2 years: 0.04-0.08 mg/kg SC bid initially with meal or snack; if tolerated after 1 wk, may increase by 0.04 mg/kg/dose, not to exceed 0.12 mg/kg bid
Individualize dose and adjust downward if hypoglycemia occurs

Interactions

Data limited; caution with coadministration of other drugs that alter blood glucose levels

Contraindications

Documented hypersensitivity; closed epiphyses; active or suspected neoplasia; IV administration

Precautions

Pregnancy

C - Safety for use during pregnancy has not been established.

Precautions

Common adverse effects include hypoglycemia, lipohypertrophy, and tonsillar hypertrophy; contains benzyl alcohol (associated with neurotoxicity in neonates); must be administered with meal or snack to avoid hypoglycemic effect (preprandial glucose monitoring recommended); similar to GH administration, intracranial hypertension with papilledema may develop and cause visual changes, headache, nausea, or vomiting; rapid growth may cause slipped capital femoral epiphysis and scoliosis progression; protein substance administration may cause local or systemic reaction (eg, flushing, hypotension/hypertension, rash, dyspnea); monitor linear growth and serum IGF-I levels every 6 mo while on therapy to maintain IGF-I levels within reference range for Tanner stage and gender while ensuring adequate therapeutic response

Follow-up

Further Inpatient Care

• Although many hospitalized patients are short, therapy directed at the illness underlying their short stature is the best course in the inpatient setting.

Further Outpatient Care

• The proper evaluation of short stature is conducted in an outpatient setting with a calibrated stadiometer.
  • The most useful information in the evaluation of a child with short stature is the child's growth pattern (see Media file 2).
    
    

    

    Comparison of the growth patterns between idiopathic short stature and constitutional growth delay.

    
    
  • In children younger than 3 years, track length and weight at 3-month intervals.
  • Standing height and weight can be tracked at 6-month intervals in older children.

Deterrence/Prevention

• Growth evaluation is a useful means of detecting chronic disease in children.

Complications

• Short stature may be the harbinger of an occult chronic disease of childhood. Normal variant short stature may be associated with a bone mineral density that is lower than in the remainder of the (taller) population. Whether this healthy subset of the population is at higher risk of osteoporosis remains unclear.

Prognosis

• 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.

Patient Education

• Superb resources prepared by health care professionals for lay audiences include the following:
  • The MAGIC Foundation (Major Aspects of Growth in Children)
  • The Hormone Foundation of The Endocrine Society
  • The Turner Syndrome Society
  • The Human Growth Foundation
• 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:
  • National Organization for Rare Disorders
  • Shwachman-Diamond Syndrome
• For excellent patient education resources, visit eMedicine's Growth Hormone Deficiency Center. Also, see eMedicine's patient education articles Short Stature in Children, Growth Hormone Deficiency, Growth Failure in Children, Understanding Growth Hormone Deficiency Medications, and Growth Hormone Deficiency FAQs.

Miscellaneous

Medicolegal Pitfalls

• Patients with mosaic Ullrich-Turner syndrome grow significantly better than patients with classic Ullrich-Turner syndrome. The patient with mosaic syndrome may grow above the third percentile of the normal female population (see Media file 4), thereby escaping the clinician's notice. In particular, girls with mosaic Ullrich-Turner syndrome may not come to attention until puberty, when they can present with primary amenorrhea. Despite a near-normal growth rate during childhood, the final adult height of a patient with mosaic Turner Syndrome (TS) may be lower than the third percentile of the normal population.
• Because girls may not have any symptoms of Ullrich-Turner syndrome, the clinician should have a high index of suspicion for this disorder in any girl with unexplained short stature, webbed neck, peripheral edema, coarctation of the aorta, delayed puberty, or any 2 of the following: nail dysplasia, high arched palate, short fourth metacarpal, or strabismus.
• The delayed diagnosis of a brain tumor associated with failure to thrive or grow is commonly associated with litigation.
• Delay in the diagnosis of acquired hypothyroidism can result in litigation.

Multimedia

Media file 1: Proper use of a wall-mounted stadiometer.

Media file 2: Comparison of the growth patterns between idiopathic short stature and constitutional growth delay.

Media file 3: Bone age comparison between an 8-year-old boy (left) and a 14-year-old adolescent boy (right).

Media file 4: Growth chart for Turner syndrome. Note that the upper limit overlaps the range for girls of normal height.

Media file 5: A single, central, maxillary incisor reflects a defect in midline facial development.

References

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4. Collett-Solberg PF, Misra M,. The role of recombinant human insulin-like growth factor-I in treating children with short stature. J Clin Endocrinol Metab. Jan 2008;93(1):10-8. [Medline].

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Keywords

short stature, short height, familial short stature, genetic short stature, constitutional delay of growth, constitutional growth delay, growth failure, GF, growth pattern, longitudinal growth assessment, chronic short stature, undernutrition genetic disorders, Bayley-Pinneau table, Tanner-Goldstein-Whitehouse table, premature closure of the epiphysial growth plates, growth hormone deficiency, GHD, Turner syndrome, TS, Ullrich-Turner syndrome, eating disorders, malabsorption, polyuria, polydipsia, upper-to-lower segment ratio, US/LS, Hashimoto thyroiditis, pseudohypoparathyroidism, Albright hereditary osteodystrophy, ulcerative stomatitis, Crohn disease, ulcerative colitis, Down syndrome, trisomy 21, insulinlike growth factor, IGF, IGF binding protein, IGFBP, Lerí-Weill dyschondrosteosis, SHOX, treatment, diagnosis

Contributor Information and Disclosures

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; Field Surgeon (Medical Corps), 162nd Area Support Medical Company, Army National Guard
Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society
Disclosure: Nutropin Speakers Bureau Honoraria Speaking and teaching; Genotropin Speakers Bureau Honoraria Speaking and teaching; Eli Lilly & Co. Grant/research funds Independent contractor; MacroGenics, Inc. Grant/research funds Independent contractor; Ipsen, S.A. (formerly Tercica, Inc.) Grant/research funds Independent contractor

Medical Editor

Angelo P Giardino, MD, PhD, Clinical Associate Professor, Department of Pediatrics, Baylor College of Medicine; Medical Director, Texas Children's Health Plan, Inc
Angelo P Giardino, MD, PhD is a member of the following medical societies: Academic Pediatric Association, American Academy of Pediatrics, American Professional Society on the Abuse of Children, Harris County Medical Society, Helfer Society, and International Society for Prevention of Child Abuse and Neglect
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Lynne Lipton Levitsky, MD, Chief, Pediatric Endocrine Unit, Massachusetts General Hospital; Associate Professor, Department of Pediatrics, Harvard University Medical School
Lynne Lipton Levitsky, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Diabetes Association, American Pediatric Society, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research
Disclosure: Pfizer Grant/research funds P.I.; Tercica Grant/research funds PI, also occasional consultant

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD, Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas and Arkansas Children's Hospital
Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research
Disclosure: Genentech, Inc. Honoraria Speaking and teaching; Pfizer, Inc. Honoraria Consulting

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