EP1779 - LBA_ECE_1459 - Beyond idiopathic diabetes insipidus: dynamic pituitary stalk changes and progressive hormonal deficits in children—case series
Year: 2026
Type: conference-abstract
Abstract: Introduction Pituitary stalk lesions are rare hypothalamic–pituitary disorders, most often identified during the diagnostic work-up of patients presenting with diabetes insipidus. Aim To describe the clinical and imaging findings in a series of pediatric patients presenting with diabetes insipidus evaluated in a pediatric endocrinology department between 2011 and 2025. Results We included 10 patients (6 boys, 4 girls), aged 3.1-13.3 years at diagnosis; 9 presented with complete and 1 with partial diabetes insipidus. Eight patients were diagnosed in our department, while 2 were already under treatment. Anterior pituitary function. At diagnosis, one patient had associated pituitary deficiency—central hypothyroidism (case_9). During a median follow-up of 3.9 years, 5 patients (50%) developed growth hormone (GH) deficiency; 3 received somatropin for short stature, while 2 maintained normal height. Three patients developed central adrenal insufficiency during follow-up (at 10.2 and 13.8 years in two cases; missing data in one case). One patient presented panhypopituitarism and hyperprolactinemia (case_10) during follow-up. Imaging findings. At diagnosis, 8 patients had a normal anterior pituitary on MRI, one had a non-functioning microadenoma and one had an infundibular tumor. The posterior pituitary bright spot was absent in 9 patients. Pituitary stalk thickening was identified in 5 patients at diagnosis (4 by MRI, 1 by CT) and in 2 additional patients during follow-up. Five patients had an undulating evolution of the stalk thickening, but eventually showed partial regression. Pituitary stalk and hormonal deficiencies. Among the 7 patients with stalk thickening, 3 developed pituitary deficiencies during follow-up (GH deficiency in 3, adrenal insufficiency in 1). Notably, one of the two patients with initially normal stalk developed both GH deficiency and central adrenal insufficiency. Etiological screening. Serum β-human chorionic gonadotropin and alpha-fetoprotein were normal in all patients, making germinoma unlikely. In one patient (case_7) the suspicion was high, so cerebrospinal fluid evaluation was proposed. Langerhans cell histiocytosis was excluded in 3 cases (case_3, case_6, case_9). One patient is under evaluation for hypophysitis (case_4). One patient (case_6) had a cranial trauma before the onset of polyuria and polydipsia. Syndromic diabetes insipidus was suspected in one case (case_10), with negative array-CGH and NGS; whole exome sequencing is ongoing. Conclusion Idiopathic diabetes insipidus in children may mask a dynamic hypothalamic–pituitary process, characterized by evolving pituitary stalk abnormalities and progressive hormonal deficiencies. In our series, imaging changes did not consistently predict endocrine outcome. Larger registries are needed to better define long-term outcomes.
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,292
OpenAlex ID: W7213288679