Diagnostic Yield of Brain MRI in Pediatric Short Stature: Hypothalamic-Pituitary Lesions and Incidental Findings in Real-World Practice.
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BACKGROUND: Brain MRI is widely performed in children with short stature or suspected growth hormone deficiency(GHD) to exclude hypothalamic-pituitary (HP) pathology, yet its diagnostic yield in routine practice is uncertain. We aimed to evaluate the prevalence, clinical significance, and distribution of HP and extrahypothalamic abnormalities in a large real-world pediatric referral cohort, and to assess the incremental diagnostic value of gadolinium contrast and pituitary morphometry. METHODS: We retrospectively reviewed 330 children (mean age: 9.2 ± 3.7 years; 60.3% boys) who underwent pituitary-protocol brain MRI between 2011 and 2024. Clinical presentation was classified as isolated short stature/suspected GHD or complex endocrine/neurologic features. Imaging findings were categorized as HP or non-HP, and classified as clinically significant (major/minor) or non-significant. Pituitary height was measured relative to age- and sex-adjusted norms. RESULTS: Clinically significant abnormalities were identified in 22 children (6.7%), including four major lesions (1.2%). HP abnormalities were present in 30 patients (9.1%), with 11 (3.3%) clinically significant: eight microadenomas and three large sellar masses. Non-HP abnormalities occurred in 41 children (12.4%); 11 (3.3%) were clinically significant, including white matter changes, Chiari I malformation, and subependymal heterotopia. A suspected thalamic tumor represented the only major non-HP lesion. Notably, most major abnormalities occurred in children without complex endocrine presentations. CONCLUSION: Among children evaluated for short stature or suspected GHD, clinically significant MRI abnormalities were uncommon and major HP pathology was rare. Nonetheless, the few high-impact lesions identified carried critical management implications, including contraindication to GH therapy and neurosurgical referral, often in children with otherwise uncomplicated presentations. In a pediatric population where delayed diagnosis may adversely affect growth, pubertal development, and treatment safety, these findings support a risk-adapted imaging strategy that preserves diagnostic vigilance while promoting responsible resource utilization.