Central Diabetes Insipidus in Children and Young Adults: Etiological Diagnosis and Long - Term Outcome of Idiopathic Cases
ABSTRACT:
Context:
Central diabetes insipidus (CDI) is considered idiopathic in 20 to 50% of affected subjects.
Objective: To determine whether systematic diagnostic work-up could allow achieving better etiologic diagnosis in children and adolescents presenting with polyuria and polydipsia.
Design and Setting:
This is a prospective study conducted at a tertiary referral center. Patients underwent clinical and endocrine evaluations every 6 months and neuroimaging every 6 months for 2 years, yearly for 3 years. Endocrine function and neuroimaging were also reassessed after adult height achievement.
Participants:
Eighty-five consecutive patients with CDI were enrolled at a median age of 7.5 years; those with idiopathic CDI were stratified based on pituitary stalk thickness.
Main Outcome Measures:
To establish the etiology of CDI; the time-lag between its onset and the specific diagnosis; the long-term impact on pituitary function and the overall long-term outcomes.
Results:
Twenty-four (28.2%) subjects received an etiologic diagnosis at presentation, 11 (13%) within 2.5 years (n=7 germinomas, n=4 Langherans-cell histiocytosis), 7 (8.2%) were lost to follow-up and 43 (50.6%) were considered idiopathic and followed till the median age of 17.3 years. Neuroimaging identified 40 out of 43 patients with self-limited inflammatory/autoimmune pituitary stalk thickness within the first 6 months, the severity of which was significantly correlated to pituitary dysfunction. The probability of more than 10-year-survival without anterior pituitary defect was related to the severity of pituitary stalk thickness and 53% showed permanent anterior pituitary defects. Three developed Langherans-cell histiocytosis and one Hodgkin's lymphoma after a median of 9 and 13 years, respectively.
Conclusions:
A diagnostic etiology was achieved in 96% of patients with CDI. Risk stratification based on the degree of pituitary stalk thickness is of prognostic value for long-term outcomes including permanent pituitary dysfunction. New guidance is provided for the management of these patients.
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