Neuroimaging findings of the hypothalamus and pituitary gland in children with growth hormone deficiency: a 25-year single-center retrospective study

Abstract Purpose Growth hormone deficiency (GHD) is a cause of short stature in childhood. Central nervous system imaging, including hypothalamic-pituitary magnetic resonance imaging (MRI) is important for the diagnostic investigation of these patients. The aim of this descriptive study was to examine the MRI findings of the hypothalamus-pituitary area in children with GHD. Methods Medical records and MRI findings of the hypothalamus and pituitary gland were retrospectively reviewed for all patients diagnosed with GHD and treated with recombinant human GH during the 25-year period 1999–2024. Results The study included 194 patients (138 boys, mean age at diagnosis 10.34 (4) years). Normal imaging findings were observed in 121/194 patients (62.3%), while abnormal findings were noted in 73/194 (37.6%) patients. Isolated or combined congenital structural anomalies of the hypothalamus-pituitary region, congenital pituitary variants, and tumors were also observed. The most frequent congenital imaging pituitary variants were pituitary hypoplasia, a partially empty sella turcica, and an ectopic posterior pituitary. Regarding tumors, 4/194 (2.1%) patients were diagnosed with craniopharyngiomas and 3/194 (1.5%) participants were diagnosed with germinomas in the hypophysis-hypothalamus region. Brain medulloblastomas were found in 3/194 (1.5%) patients. The 93.2% of the study sample (181/194) was diagnosed with isolated GHD, while in 13 patients (6.7%) multiple pituitary hormone insufficiency was established. Conclusions Imaging of the hypothalamus and pituitary in children with GHD is essential and often reveals benign findings/variants in the region, which should be taken into account during long-term follow-up for possible deficiency of other hormones. Craniopharyngiomas remain the most common tumor causing GHD.