title: Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1.
abstract: BACKGROUND
  Although pituitary autoantibodies have frequently been reported in Autoimmune Polyendocrine Syndrome type 1 (APS1), the autoimmune involvement of the hypothalamic-pituitary axis remains to be elucidated.
  
  
  OBJECTIVE
  Our aim was to identify in APS1 patients novel autoantibodies, especially against hypothalamic-pituitary targets, and to correlate their presence with clinical features.
  
  
  METHODS
  We analyzed 14 APS1 patients from Sardinia, compared to other diseases and healthy donors. MEASURE(S): We used immunohistochemistry, on tissues substrates from various neuroendocrine organs, to detect autoantibody targets. Immunoenzymatic assays, as well as absorption with specific antigens were used to reveal autoantibodies against growth hormone (GH), luteinizing hormone (LH) and somatocrinin (GHRH). Clinical evaluations included GH secretory and cardiovascular autonomic neuropathy tests.
  
  
  RESULTS
  Sera from 12/14 APS1 patients revealed autoantibodies reacting with the hypothalamic-pituitary axis, cerebellum, substantia nigra, and/or adrenal medulla, as well as with GH, LH and/or GHRH. Of APS1 patients, 5 showed GH deficiency, in association (4/5 cases) with autoantibodies to hypothalamic and/or pituitary targets. Hypogonadotrophic hypogonadism was revealed in one APS1 patient, together with autoantibodies against gonadotropes. Autonomic neuropathy was detected in 5 of 10 patients, associated with autoantibodies to adrenal medulla in 2 cases. Of 5 patients with autoantibodies to cerebellar neurons, 2 reported emotional or memory alterations.
  
  
  CONCLUSIONS
  The majority of Sardinian APS1 patients developed autoantibodies to an assortment of neuroendocrine cells. Novel targets of clinical relevance may include pituitary hormones, uncharacterized pituitary targets, and adrenal medullary cells. An high prevalence of GH deficiency, and possibly of autonomic neuropathy, were also revealed.
authors.affiliation: NEF-Laboratory, Department of Biomedical Science, University of Cagliari, Italy. cristina.cocco@unica.it
authors.forename: Cristina
authors.initials: C
authors.lastname: Cocco
authors.forename: Antonella
authors.initials: A
authors.lastname: Meloni
authors.forename: Stefano
authors.initials: S
authors.lastname: Mariotti
authors.forename: Efisio
authors.initials: E
authors.lastname: Cossu
authors.forename: Filomena
authors.initials: F
authors.lastname: D'amato
authors.forename: Stefania
authors.initials: S
authors.lastname: Zulian
authors.forename: Enrico
authors.initials: E
authors.lastname: Tongiorgi
authors.forename: Gian-Luca
authors.initials: GL
authors.lastname: Ferri
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000818:Animals; D001323:Autoantibodies / Q000097:blood* / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D005260:Female; D013007:Growth Hormone-Releasing Hormone / Q000276:immunology*; D019382:Human Growth Hormone / Q000172:deficiency / Q000276:immunology*; D006801:Humans; D007986:Luteinizing Hormone / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000453:epidemiology / Q000276:immunology; D016884:Polyendocrinopathies, Autoimmune / Q000453:epidemiology / Q000276:immunology*; D051381:Rats; D017207:Rats, Sprague-Dawley; D055815:Young Adult
chemical_list: D001323:Autoantibodies; D019382:Human Growth Hormone; D007986:Luteinizing Hormone; D013007:Growth Hormone-Releasing Hormone