eMedicine Specialties > Pediatrics: General Medicine > Endocrinology

Growth Hormone Deficiency: Differential Diagnoses & Workup

Author: Stephen Kemp, MD, PhD, Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas and Arkansas Children's Hospital
Contributor Information and Disclosures

Updated: Sep 15, 2008

Differential Diagnoses

Achondroplasia
Noonan Syndrome
Child Abuse & Neglect: Psychosocial Dwarfism
Panhypopituitarism
Constitutional Growth Delay
Silver-Russell Syndrome
Hyposomatotropism
Turner Syndrome
Hypothyroidism
Laron Syndrome

Other Problems to Be Considered

Familial (genetic) short stature
Constitutional delay of growth
Short stature accompanying systemic disease
Short stature as part of a genetic syndrome
Short stature related to endocrinopathy (eg, hypothyroidism, Cushing syndrome)
Short stature related to a metabolic abnormality (ie, renal tubular acidosis, poorly controlled diabetes mellitus)
Short stature from abuse and neglect

Workup

Laboratory Studies

  • Thyroxine and thyroid-stimulating hormone: Hypothyroidism should be excluded as a cause of growth failure and short stature.
  • Serum electrolytes: A low bicarbonate level may indicate renal tubular acidosis, which can result in growth failure. Abnormal electrolytes may indicate renal failure.
  • CBC count and sedimentation rate: These studies may be helpful if inflammatory bowel disease is suspected.
  • IGF-1 and IGFBP-3
    • Both IGF-1 and IGFBP-3 are growth hormone–dependent.
    • Low values of IGF-1 and IGFBP-3 suggest growth hormone deficiency (GHD). However, a low value alone is not diagnostic because IGFs are sensitive to other factors such as nutritional state and chronic systemic disease.
  • Karyotype
    • Girls with otherwise unexplained short stature should have a karyotype study to rule out Turner syndrome.
    • Although many girls with Turner syndrome are diagnosed from signs upon physical examination, the only recognizable feature of many girls with the condition is short stature.
    • In particular, girls with mosaic karyotypes or karyotypes with isochromosomes tend to exhibit fewer signs specific to Turner syndrome.
    • Many girls with Turner syndrome, and particularly those with mosaic karyotypes and karyotypes other than 45,X, do not demonstrate the striking stigmata associated with Turner syndrome.

Imaging Studies

  • MRI of the head
    • Patients diagnosed with growth hormone deficiency should undergo an MRI of the head to exclude a brain tumor (eg, craniopharyngioma).
    • Approximately 15% of patients with growth hormone deficiency have an abnormality of the pituitary gland (eg, ectopic bright spot, empty or small sella).

Other Tests

  • Bone age determination
    • Comparison of a left hand and wrist radiograph to standards can be used to estimate skeletal maturation.
    • With familial short stature, bone age is comparable to chronological age. Bone age is usually delayed in children with constitutional growth delay, malnutrition, and endocrine causes of short stature (eg, hypothyroidism, cortisol excess, growth hormone deficiency).
    • Bone age also allows determination of growth potential as adult stature may be estimated from the Bayley-Pinneau tables.
  • Growth hormone provocative testing
    • Growth hormone response to insulin is the most reliable test for growth hormone deficiency.
    • Before accepting growth hormone deficiency diagnosis, many insurance companies require a documented failure to demonstrate a growth hormone response (with a growth hormone level >10 ng/mL) after presentation of 2 provocative stimuli.
    • Provocative stimuli include insulin-induced hypoglycemia, arginine, levodopa (L-dopa), clonidine, and glucagon.

More on Growth Hormone Deficiency

Overview: Growth Hormone Deficiency
Differential Diagnoses & Workup: Growth Hormone Deficiency
Treatment & Medication: Growth Hormone Deficiency
Follow-up: Growth Hormone Deficiency
References
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References

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Further Reading

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Keywords

growth hormone deficiency GH deficiency, GHD, hypopituitarism, hypopituitary dwarfism, Creutzfeldt-Jakob disease, septooptic dysplasia, SOD, de Morsier syndrome, encephalitis, meningitis, craniopharyngioma, leukemia, CNS malformation, CNS tumor, histiocytosis, CNS infection, short stature, hypoglycemia, intrauterine growth retardation, malnutrition, delayed puberty, Turner syndrome, Noonan syndrome, Russell-Silver syndrome

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Contributor Information and Disclosures

Author

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; Pfiser, Inc. Honoraria Consulting

Medical Editor

Arlan L Rosenbloom, MD, Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology
Arlan L Rosenbloom, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Florida Pediatric Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research
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 broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Barry B Bercu, MD, Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital
Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Federation for Clinical Research, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Lawson-Wilkins Pediatric Endocrine Society, Pituitary Society, Society for Pediatric Research, Society for the Study of Reproduction, and Southern Society for Pediatric Research
Disclosure: Nothing to disclose.

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

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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