Clinical diagnoses of children with extremely short stature and their response to growth hormone
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K C Moore1, D L Donaldson, P L Ideus
1Department of Pediatrics, University of Kansas Medical Center, Kansas City 66103.
Insights
Most children with extreme short stature respond well to human growth hormone (hGH) therapy, regardless of diagnosis. Growth hormone (GH) deficiency is the most definitive diagnosis, but standard criteria are challenging for other classifications.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Extremely short stature in children presents diagnostic challenges.
- Accurate classification is crucial for predicting treatment response, particularly to human growth hormone (hGH).
Purpose of the Study:
- To determine the prevalence of clinical diagnoses in children with extremely short stature (height SDS < -2.5).
- To assess if diagnostic classification predicts response to human growth hormone (hGH) treatment.
Main Methods:
- Classified 49 children with short stature (height SDS < -2.5) using primary and secondary diagnostic criteria.
- Evaluated diagnostic categories including growth hormone (GH) deficiency, constitutional delay, familial short stature, and primordial short stature.
- Analyzed pretreatment and on-treatment growth rates with hGH therapy.
Main Results:
- Growth hormone (GH) deficiency, defined by peak stimulated GH < 5 micrograms/L, was the most definitive diagnosis.
- Children with GH deficiency showed significantly lower pretreatment growth rates compared to other groups.
- All children, including those without GH deficiency, demonstrated positive responses to hGH therapy, with GH-deficient children showing the greatest increase.
Conclusions:
- Standard diagnostic criteria are difficult to apply consistently for children with extreme short stature, except for GH deficiency.
- Most children with extreme short stature benefit from hGH therapy, irrespective of their specific diagnosis.
- Clinical diagnosis should not preclude children from receiving hGH therapy.
Abstract:
This study was undertaken to determine the prevalence of clinical diagnoses in a group of children with extremely short stature (standard deviation score for height, < -2.5) and to determine whether the classification might help in predicting response to human growth hormone (hGH) treatment. We classified 49 children referred consecutively to our outpatient clinic for evaluation of short stature with heights < -2.5 standard deviation score and bone ages < 9 years for girls or < 10 years for boys (to avoid an effect of puberty on the response to hGH). The diagnostic categories were growth hormone (GH) deficiency, constitutional delay, familial short stature, and primordial short stature. After referral, Turner syndrome was diagnosed in two children. The remaining 47 children were classified according to primary criteria, considered essential for the diagnosis, and secondary criteria, considered necessary but of lesser importance. There were five children, four children, no children, and one child classified, respectively, with GH deficiency, constitutional delay, familial short stature, and primordial short stature by using the most rigorous definitions of the diagnoses. There was significant overlap in the diagnoses other than GH deficiency. Growth hormone deficiency defined by the primary criterion of peak stimulated GH values < 5 micrograms/L was the most definitive. Of the 47 children, 7 were classified as GH deficient by this criterion and 5 were classified as GH deficient by the primary and secondary criteria. The mean pretreatment growth rate (3.1 +/- 1.9 cm/yr) of the group with stimulated GH values < 5 micrograms/L was significantly less than that in the other groups (4.2 +/- 1.5 cm/yr). The mean growth rate of the children with GH deficiency during treatment with hGH was greater than that in the other groups and was 3.4 times greater than the pretreatment growth rate. The mean growth rate of children in the other groups during hGH treatment was twofold greater than the pretreatment growth rate. We conclude that except for GH deficiency, children with an extreme degree of short stature are not easily classified by standard diagnostic criteria, and that most short children have a positive response to hGH therapy regardless of the diagnosis; therefore a specific clinical diagnosis should not be used to exclude children from hGH therapy.