title: Central diabetes insipidus in children and young adults: etiological diagnosis and long-term outcome of idiopathic cases.
abstract: BACKGROUND
  Central diabetes insipidus (CDI) is considered idiopathic in 20% to 50% of affected subjects.
  
  
  OBJECTIVE
  The purpose of this study was to determine whether a systematic diagnostic workup could achieve better etiologic diagnosis in children and adolescents presenting with polyuria and polydipsia.
  
  
  METHODS
  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 and yearly for 3 years. Endocrine function and neuroimaging were also reassessed after adult height achievement.
  
  
  METHODS
  A total of 85 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.
  
  
  METHODS
  To establish the etiology of CDI, we determined the time lag between its onset and the specific diagnosis, the long-term impact on pituitary function, and the overall long-term outcomes.
  
  
  RESULTS
  Of the subjects, 24 (28.2%) received an etiologic diagnosis at presentation and 11 (13%) within 2.5 years (n = 7 germinomas and n = 4 Langerhans cell histiocytosis), 7 (8.2%) were lost to follow-up, and 43 (50.6%) were considered to have idiopathic disease and were followed until the median age of 17.3 years. Neuroimaging identified 40 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 >10-year-survival without an anterior pituitary defect was related to the severity of pituitary stalk thickness, and 53% showed permanent anterior pituitary defects. Three patients developed Langerhans cell histiocytosis and 1 developed Hodgkin 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.
authors.affiliation: Department of Pediatrics (N.D.I., A.C., E.C., N.F., M.V., M.M.), Istituto Giannina Gaslini, University of Genova, 16147 Genova, Italy; and Department of Pediatrics (A.E.M.A., F.N.), Pediatric Neuroradiology (A.R.), and Epidemiology, Biostatistics and Committee's Unit (F.B., R.H.), Istituto Giannina Gaslini, 16147 Genova, Italy.
authors.forename: Natascia
authors.initials: N
authors.lastname: Di Iorgi
authors.forename: Anna Elsa Maria
authors.initials: AE
authors.lastname: Allegri
authors.forename: Flavia
authors.initials: F
authors.lastname: Napoli
authors.forename: Annalisa
authors.initials: A
authors.lastname: Calcagno
authors.forename: Erika
authors.initials: E
authors.lastname: Calandra
authors.forename: Nadia
authors.initials: N
authors.lastname: Fratangeli
authors.forename: Marianna
authors.initials: M
authors.lastname: Vannati
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Francesca
authors.initials: F
authors.lastname: Bagnasco
authors.forename: Riccardo
authors.initials: R
authors.lastname: Haupt
authors.forename: Mohamad
authors.initials: M
authors.lastname: Maghnie
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D020790:Diabetes Insipidus, Neurogenic / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D059906:Neuroimaging; D009929:Organ Size; D010901:Pituitary Function Tests; D010902:Pituitary Gland / Q000473:pathology; D011379:Prognosis; D055815:Young Adult