Retrospective chart review of 1373 consecutive short stature referrals evaluated at the Cincinnati Children's Hospital Medical Center Pediatric Endocrinology Clinic between 2008 and 2011. We identified 235 patients with a height of <3rd percentile, negative history and review of systems, and normal physical examination. Outcome measures were incidence of pathology detection, diagnostic group characteristics, clinicians' adherence to testing guidelines, and screening costs. ANOVA and ¦Ö2 were used to analyze the data.
Nearly 99 % of patients were diagnosed as possible variants of normal growth: 23 % with familial short stature, 41 % with constitutional delay of growth and maturation, and 36 % with idiopathic short stature. The incidence of newly diagnosed pathology was 1.3 % : 1 patient with biopsy-proved celiac disease, 1 with unconfirmed celiac disease, and 1 with potential insulin-like growth factor I receptor defect. On average, each patient had 64.3 % of the recommended tests for age and sex; 2.1 % of patients had all of the recommended testing. The total screening tests costs were $315?321, yielding $105?107 per new diagnosis entertained.
Healthy short children do not warrant nondirected, comprehensive screening. Future guidelines for evaluating short stature should include patient-specific testing.