scholarly journals The diagnosis of growth hormone deficiency remains a judgment call – and that is good

Author(s):  
David B. Allen

Abstract: The diagnosis of GHD still does not reflect evidence-based and generally accepted practice, and reliance on growth hormone stimulation testing (GST) leads to a high rate of false positive diagnosis of idiopathic isolated GHD (IIGHD). While searching for more definitive indicators of GHD is attractive, it should not distract from currently available steps to reduce erroneous IIGHD diagnoses. This paper describes opportunities to improve the accuracy of the GST which include: 1) meticulous selection of candidates for GST, since a low prevalence of GHD among short children in general is a major factor undermining the test’s diagnostic accuracy; 2) departure from traditional pass/fail diagnostic GH cutoffs towards, instead, formulation of diagnoses along a continuum that spans actual GHD -> provisional GHD -> not GHD; 3) response to the provisional diagnosis of IIGHD based on GST with additional post-test observation or alternative growth-promoting interventions rather than immediate hGH treatment; 4) re-examination and often correction of a prior IIGHD diagnosis with the onset of puberty. Modern medicine is increasingly offering diagnostic tests that aim to eliminate the need for provisional diagnoses. But a pitfall of such a “definitive” test for GHD would be the temptation to respond to its results definitively. Given the nuances, variations, and fluctuations in GH axis function over time, children evaluated for growth concerns are still best served by clinical judgment that combines thoroughness, patience, flexibility, and healthy skepticism into the diagnosis of GHD.

1979 ◽  
Vol 26 (1) ◽  
pp. 133-136 ◽  
Author(s):  
YOSHIAKI OKADA ◽  
KAZUO WATANABE ◽  
TORU TAKEUCHI ◽  
TOSHIO ONISHI ◽  
KIYOJI TANAKA ◽  
...  

1984 ◽  
Vol 104 (2) ◽  
pp. 172-176 ◽  
Author(s):  
J.M. Gertner ◽  
M. Genel ◽  
S.P. Gianfredi ◽  
R.L. Hintz ◽  
R.G. Rosenfeld ◽  
...  

PEDIATRICS ◽  
1998 ◽  
Vol 102 (Supplement_3) ◽  
pp. 524-526
Author(s):  
Raymond L. Hintz

The use of auxologic measurements in the diagnosis of short stature in children has a long history in pediatric endocrinology, and they have even been used as the primary criteria in selecting children for growth hormone (GH) therapy. Certainly, an abnormality in the control of growth is more likely in short children than in children of normal stature. However, most studies have shown little or no value of auxologic criteria in differentiating short children who have classic growth hormone deficiency (GHD) from short children who do not. In National Cooperative Growth Study Substudy VI, in more than 6000 children being assessed for short stature, the overall mean height SD score was −2.5 ± 1.1 and the body mass index standard deviation score was −0.5 ± 1.4. However, there were no significant differences in these measures between the patients who were found subsequently to have GHD and those who were not. There also was no consistent difference in the growth rates between the patients with classic GHD and those short children without a diagnosis of GHD. This probably reflects the fact that we are dealing with a selected population of children who were referred for short stature and are further selecting those who are the shortest for additional investigation. Growth factor measurements have been somewhat more useful in selecting patients with GHD and have been proposed as primary diagnostic criteria. However, in National Cooperative Growth Study Substudy VI, only small differences in the levels of insulin-like growth factor I and insulin-like growth factor binding protein 3 were seen between the patients who were selected for GH treatment and those who were not. Many studies indicate that the primary value of growth factor measurements is to exclude patients who are unlikely to have GHD or to identify those patients in whom an expedited work-up should be performed. The diagnosis of GHD remains difficult and must be based on all of the data possible and the best judgment of an experienced clinician. Even under ideal circumstances, errors of both overdiagnosis and underdiagnosis of GHD still are likely.


Author(s):  
Jane Loftus ◽  
Anders Lindberg ◽  
Ferah Aydin ◽  
Roy Gomez ◽  
Mohamad Maghnie ◽  
...  

AbstractBackground:Growth prediction models (GPMs) exist to support clinical management of children treated with growth hormone (GH) for growth hormone deficiency (GHD), Turner syndrome (TS) and for short children born small for gestational age (SGA). Currently, no prediction system has been widely adopted.Content:The objective was to develop a stand-alone web-based system to enable the widespread use of an ‘individualised growth response optimisation’ (iGRO) tool across European endocrinology clinics. A modern platform was developed to ensure compatibility with IT systems and web browsers. Seventeen GPMs derived from the KIGS database were included and tested for accuracy.Summary:The iGRO system demonstrated prediction accuracy and IT compatibility. The observed discrepancies between actual and predicted height may support clinicians in investigating the reasons for deviations around the expected growth and optimise treatment.Conclusions:This system has the potential for wide access in endocrinology clinics to support the clinical management of children treated with GH for these three indications.


2015 ◽  
Vol 101 (1) ◽  
pp. 96-100 ◽  
Author(s):  
P G Murray ◽  
M T Dattani ◽  
P E Clayton

Growth hormone deficiency (GHD) is a rare but important cause of short stature in childhood with a prevalence of 1 in 4000. The diagnosis is currently based on an assessment of auxology along with supporting evidence from biochemical and neuroradiological studies. There are significant controversies in the diagnosis and management of GHD. Growth hormone (GH) stimulation tests continue to play a key role in GHD diagnosis but the measured GH concentration can vary significantly with stimulation test and GH assay used, creating difficulties for diagnostic accuracy. Such issues along with the use of adjunct biochemical markers such as IGF-I and IGFBP-3 for the diagnosis of GHD, will be discussed in this review. Additionally, the treatment of GHD remains a source of much debate; there is no consensus on the best mechanism for determining the starting dose of GH in patients with GHD. Weight and prediction based models will be discussed along with different mechanisms for dose adjustment during treatment (auxology or IGF-I targeting approaches). At the end of growth and childhood treatment, many subjects diagnosed with isolated GHD re-test normal. It is not clear if this represents a form of transient GHD or a false positive diagnosis during childhood. Given the difficulties inherent in the diagnosis of GHD, an early reassessment of the diagnosis in those who respond poorly to GH is to be recommended.


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