Background: The diagnosis of Isolated Growth Hormone Deficiency (IGHD) in childhood is a complex process requiring clinical and auxological assessment, combined with biochemical tests of the GH-insulin-like growth factor (IGF) axis and radiological evaluation. Current guidelines recommend MRI of the hypothalamic-pituitary region to identify structural defects and to rule-out intracranial lesions. Such MRI scans are costly and in young children require general anesthesia. Limited research has been performed regarding the utility of brain MRI scans in children with IGHD.
Objectives: To identify clinical and laboratory parameters associated with pathological brain MRI in children with IGHD.
Methods: A retrospective chart review of all children (<18 years) diagnosed with IGHD at our center between 2008 and 2018 for auxologic, laboratory and brain MRI findings.
Results: Sixty-nine children (50 boys) with IGHD were included. Three children had pathologic MRI: one had ectopic posterior hypophysis and two had hypoplastic hypophysis. In our cohort, a height deficit threshold of 2 SDS (difference between their height SDS and mid-parental height SDS) and a peak GH level threshold of 6.5 μg/l detected all pathological cases, with a sensitivity of 100% and specificity of 83%. No space occupying lesions were detected.
Conclusion: Based on our preliminary findings it is proposed that brain MRI not be ordered routinely in children with IGHD. Further studies with large cohorts are needed to establish evidence-based criteria involving the diagnosis of IGHD.