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Diagnosis of growth hormone deficiency in children

Erick J Richmond, MD
Alan D Rogol, MD, PhD
Section Editor
Mitchell E Geffner, MD
Deputy Editor
Alison G Hoppin, MD


Growth hormone (GH) has been available for management of the short stature associated with growth hormone deficiency (GHD) for more than 50 years; recombinant DNA-derived human growth hormone (rhGH) has been available since 1985. While availability is no longer a problem, there still remains a number of difficulties with the diagnosis of GHD, resulting mainly from the lack of appropriate tools to make (or exclude) the diagnosis reliably.

The incidence of short stature associated with GHD has been estimated to be about 1:4000 to 1:10000 [1-3]. It is the primary indication for GH treatment in childhood, which presently requires daily subcutaneous injections for the patient and substantial cost for the healthcare system. Based on these premises, it is clear that an accurate diagnosis is essential [4,5].

The diagnosis of GHD in children is reviewed here. The treatment of this disorder is discussed separately. The evaluation of a child with short stature also is discussed separately. (See "Treatment of growth hormone deficiency in children" and "Diagnostic approach to children and adolescents with short stature".)


The scientific study of growth and development of children (auxology) began some 250 years ago [6] and is still an indispensable tool in pediatrics. Most pediatric endocrinologists agree that the foundation for the diagnosis of GHD in childhood is based on a comparison of the child's growth pattern with established norms. A consensus view concluded that clinical assessment of the growth-retarded child is the single most useful parameter in diagnosing growth disorders and challenged the status of GH measurements as the diagnostic "gold standard" [7].

Errors in length or height measurements may be the result of unreliable equipment. For this reason, all apparatus should be checked frequently. More often, measuring procedures are at fault, perhaps in the positioning of the subject or in locating proper landmarks. (See "Measurement of growth in children".)

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Literature review current through: Oct 2017. | This topic last updated: Apr 09, 2017.
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