Being Short -Not Pathologic

A recent retrospective review from Cincinnati Children’s showed a surprisingly low level of underlying disease in asymptomatic short children (J Pediatr 2013; 163: 1045-51).

The authors reviewed 1373 consecutive cases of short stature referrals (endocrinology) between 2008-2011.  In this cohort, there were 235 who met inclusion criteria as having height <3rd percentile and otherwise well.


  • Nearly 99% of patients were diagnosed as possible variants of normal growth: 23% with familial short stature, 41% with constitutional delay…and 36% with idiopathic short stature”
  • New pathology: 1 patient with biopsy-proven celiac disease, 1 patient with unconfirmed celiac diease, and 1 patient with potential insulin-like growth factor I receptor defect.
  • Cost for each new diagnosis:  >$100,000

One important caveat from the study was the focus was not on those with growth failure –height velocity less than 5 cm/year; this study analyzed those with short stature only.  In all short (growth failure and isolated short stature) patients, previous studies have identified a much higher rate of organic pathology.  The authors also note that only 37% of their patients had appropriately maintained growth records forwarded (even after requests).  One other point that I found interesting: “Contrary to common belief, short stature has not been shown to result in impaired quality of life.”

Conclusions: “healthy short children do not warrant non directed, comprehensive screening.” The authors advocate for revision of pediatric endocrine guidelines for evaluation of these children. Reference: J Clin Endocrinol Metab 2008; 93: 4210-7.

These conclusions should be applied ONLY to those without symptoms and with normal exams (which should include a perianal examination).

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