Idiopathic central diabetes insipidus in children and young adults is commonly associated with vasopressin-cell antibodies and markers of autoimmunity.
OBJECTIVE
Autoimmune targeting of hypothalamic-neurohypophyseal structures in children and young adults with posterior pituitary and anterior pituitary dysfunction, as well as pituitary stalk involvement, are not yet completely understood.


METHODS
We aimed to (1) evaluate the presence of circulating vasopressin-cell autoantibodies (AVPc-Abs) in young patients with central diabetes insipidus (CDI), (2) detect organ-specific autoantibodies as markers of autoimmunity, and (3) define the relationship between immune markers and neuroimaging findings.


METHODS
Twenty patients were evaluated at a median age of 16.3 years. Twelve patients had idiopathic CDI, six had Langerhans cell histiocytosis (LCH) and two had germinoma. AVPc-Abs were evaluated in 40 healthy children. Magnetic resonance imaging (MRI) of the hypothalamic-pituitary region was performed longitudinally in all subjects.


METHODS
Circulating arginine vasopressin (AVP), protein tyrosine phosphatase (IA2), glutamic acid decarboxylase (GAD), 21-hydroxylase (21-OH), endomysium antibodies (EMA), parietal cell (PCA), thyroid peroxidase (TPO), thyroglobulin (TG) and TSH-receptor (TSHr) autoantibodies were evaluated.


RESULTS
Circulating AVPc-Abs were found in 15 patients (75%), nine with idiopathic CDI, four with LCH and two with germinoma; the pituitary stalk was involved in most of them. Five patients with idiopathic CDI showed a persistence of AVPc-Abs during follow-up and one became positive subsequently. Serum IA2 autoantibodies were demonstrated in 14 patients (70%) and 21-OH autoantibodies in three of them.


CONCLUSIONS
In idiopathic CDI, circulating AVPc-Abs suggest an autoimmune involvement of the neurohypophyseal system. The identification of AVPc-Abs in subjects who could have either idiopathic CDI or LCH or germinoma, however, indicates that AVPc-Abs cannot be considered a completely reliable marker of autoimmune CDI. Thus, close clinical and MRI follow-up are needed because AVPc-Abs may mask germinoma or LCH.
Maghnie
Mohamad
M
Department of Paediatrics, IRCCS G. Gaslini Institute, University of Genova, Italy. mohamadmaghnie@ospedale-gaslini.ge.it
Ghirardello
Stefano
S
De Bellis
Annamaria
A
di Iorgi
Natascia
N
Ambrosini
Linda
L
Secco
Andrea
A
De Amici
Mara
M
Tinelli
Carmine
C
Bellastella
Antonio
A
Lorini
Renata
R
D000293:Adolescent; D001127:Arginine Vasopressin / Q000276:immunology*; D001323:Autoantibodies / Q000097:blood*; D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002648:Child; D020790:Diabetes Insipidus, Neurogenic / Q000276:immunology* / Q000378:metabolism / Q000473:pathology; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D008279:Magnetic Resonance Imaging; D008297:Male; D010901:Pituitary Function Tests; D010902:Pituitary Gland / Q000473:pathology; D010903:Pituitary Gland, Anterior / Q000378:metabolism; D010904:Pituitary Gland, Posterior / Q000378:metabolism / Q000473:pathology; D010907:Pituitary Hormones / Q000097:blood; D017027:Protein Tyrosine Phosphatases / Q000276:immunology; D013963:Thyroid Hormones / Q000097:blood
D001323:Autoantibodies; D007074:Immunoglobulin G; D010907:Pituitary Hormones; D013963:Thyroid Hormones; D001127:Arginine Vasopressin; D017027:Protein Tyrosine Phosphatases