ECEESPE2025 ePoster Presentations Pituitary, Neuroendocrinology and Puberty (220 abstracts)
1IRCCS Istituto Giannina Gaslini, Genoa, Italy; 2IRCCS Istituto Giannina Gaslini, Pediatric Endocrinology, Genoa, Italy; 3IRCCS Istituto Giannina Gaslini, Neuroradiology Unit, Genoa, Italy; 4IRCCS Istituto Giannina Gaslini, Epidemiology and Biostatistics Unit, Scientific Directorate, Genoa, Italy; 5University of Genoa, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Genoa, Italy
JOINT2472
Background: The causes of central diabetes insipidus (CDI) are often unclear at the time of diagnosis. The clinical presentation and typical brain MRI findings in CDI are not always specific to a particular cause.
Aims: This study aims to assess the prevalence of distinct brain MRI abnormalities in CDI patients and explore potential associations between these findings and the underlying etiology of CDI.
Methods: Data from 131 patients were analyzed, including 109 with CDI of various causes and 22 with Langerhans cell histiocytosis (LCH) without CDI, with disease onset between 0 and 17.99 years and a follow-up period of at least two years. A total of 1,355 brain MRIs were reviewed to identify specific MRI changes. The thickness of the proximal, middle, and distal segments of the pituitary stalk was measured at onset and six months later. Hormone deficiencies were also evaluated and correlated with MRI abnormalities.
Results: Extrasellar lesions were found in 16 of the 109 CDI patients (14.7%), with a significantly higher prevalence in LCH patients compared to those with neuro-oncological causes (P = 0.004) and genetic, malformative, or post-infectious causes (P = 0.012). However, the prevalence of extrasellar lesions did not significantly differ between LCH and idiopathic CDI. In LCH patients, extrasellar lesions were more common in those with CDI (P = 0.024). FLAIR hyperintensity of the tuber cinereum was noted in 8 CDI patients (7.3%), and this was more frequent in CDI patients with LCH than those with other etiologies (P <0.0001), being absent in LCH patients without CDI. Hypothalamic involvement was significantly more common in CDI patients with neuro-oncological causes. A mismatch pattern was observed in 21 CDI patients (19.3%), more commonly seen in idiopathic CDI and CDI with LCH (P <0.0001). No significant change in pituitary stalk thickness was observed between the initial and six-month follow-up assessments in any patient group.
Conclusions: FLAIR hyperintensity of the tuber cinereum was more frequently seen in patients with LCH, suggesting it could be a specific marker for LCH. Extrasellar lesions were more common in LCH patients compared to those with other CDI causes and were more frequent than in idiopathic CDI, highlighting their potential as an early indicator of LCH.