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Short Stature Workup

  • Author: Sunil Sinha, MD; Chief Editor: Stephen Kemp, MD, PhD  more...
 
Updated: Jun 17, 2016
 

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
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Imaging Studies

Perform anteroposterior radiography of left hand and wrist to assess bone age (see image below).

Bone age comparison between an 8-year-old boy (lefBone 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.

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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.

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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.
  • Peak GH level is higher if the patient recently exposed to sex steroids but controversy among pediatric endocrinologist persists regarding the use of sex steroid priming prior to stimulation testing.

Perform all GH provocative testing under the supervision of a pediatric endocrinologist. Please refer to Hyposomatotropism for further details of these tests.

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Contributor Information and Disclosures
Author

Sunil Sinha, MD Assistant Professor, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

Sunil Sinha, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, Endocrine Society, Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lynne Lipton Levitsky, MD Chief, Pediatric Endocrine Unit, Massachusetts General Hospital; Associate Professor of Pediatrics, Harvard 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, Pediatric Endocrine Society, Society for Pediatric Research

Disclosure: Received grant/research funds from Eli Lilly for pi; Received grant/research funds from NovoNordisk for pi; Received consulting fee from NovoNordisk for consulting; Partner received consulting fee from Onyx Heart Valve for consulting.

Chief Editor

Stephen Kemp, MD, PhD Former Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, 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, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Angelo P Giardino, MD, MPH, PhD Professor and Section Head, Academic General Pediatrics, Baylor College of Medicine; Senior Vice President and Chief Quality Officer, Texas Children’s Hospital

Angelo P Giardino, MD, MPH, 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, International Society for the Prevention of Child Abuse and Neglect, Ray E Helfer Society

Disclosure: Received grant/research funds from Health Resources and Services Administration (HRSA) Integrated Community Systems for CSHCN Grant for other; Received advisory board from Baxter Healthcare Corporation for board membership.

Acknowledgements

Robert J Ferry Jr, MD Le Bonheur Chair of Excellence in Endocrinology, Professor and Chief, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

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, Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society

Disclosure: Eli Lilly & Co Grant/research funds Investigator; MacroGenics, Inc Grant/research funds Investigator; Ipsen, SA (formerly Tercica, Inc) Grant/research funds Investigator; NovoNordisk SA Grant/research funds Investigator; Diamyd Grant/research funds Investigator; Bristol-Myers-Squibb Grant/research funds Other; Amylin Other; Pfizer Grant/research funds Other; Takeda Grant/research funds Other

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Proper use of a wall-mounted stadiometer.
Comparison of the growth patterns between idiopathic short stature and constitutional growth delay.
Bone age comparison between an 8-year-old boy (left) and a 14-year-old adolescent boy (right).
Growth chart for Turner syndrome. Note that the upper limit overlaps the range for girls of normal height.
A single, central, maxillary incisor reflects a defect in midline facial development.
 
 
 
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