title: Polyendocrine syndrome type 3C in a family from Pakistan.
abstract: In type 3 polyendocrine syndrome (PAS3), autoimmune thyroiditis occurs with other organ-specific autoimmune disease, but not with autoimmune adrenalitis. In this report we described a family from Pakistan in which mother and three daughters were affected by a PAS3. We studied a family from Pakistan: Father MMu age 44, mother KN aged 44, three daughters MM age 20, MH age 16 and MA age 14 and a son MU age 18. These subjects were tested for thyroids function, metabolic function, adrenal function, autoimmune disease. In this family the four females were shown hypothyroidism with presence of anti thyroid autoantibodies (AA) and high TSH serum concentration in association with the presence of anti transglutaminase AA. Moreover KN, MM and MH were positive for anti nuclear AA (granular pattern) and for antibodies against Saccaromyces cerevisiae. MM was positive for AA against nuclear extractable antigens (SSA and SSB) too. No diabetes or pernicious anemia were observed. Adrenal and Pituitary function were normal. PAS 3C is an uncommon disease. In this family from Pakistan we observed a PAS3C in the four female members: mother and three daughters while father and son were unaffected.
authors.affiliation: Service of Clinical Pathology Madonna della Navicella Hospital Chioggia, Venice, Italy - ggessoni@asl14chioggia.veneto.it.
authors.forename: G
authors.initials: G
authors.lastname: Gessoni
authors.forename: F
authors.initials: F
authors.lastname: Antico
authors.forename: D
authors.initials: D
authors.lastname: Caroli
authors.forename: A
authors.initials: A
authors.lastname: Nogara
authors.forename: S
authors.initials: S
authors.lastname: Valverde
authors.forename: M
authors.initials: M
authors.lastname: Fezzi
authors.forename: M
authors.initials: M
authors.lastname: Zucchelli
authors.forename: A
authors.initials: A
authors.lastname: Boscolo-Bariga
mesh_terms: D000293:Adolescent; D000328:Adult; D000918:Antibody Specificity; D001323:Autoantibodies / Q000097:blood; D001324:Autoantigens / Q000276:immunology; D002446:Celiac Disease / Q000235:genetics; D005260:Female; D006680:HLA Antigens / Q000235:genetics; D006728:Hormones / Q000097:blood; D006801:Humans; D008297:Male; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D016884:Polyendocrinopathies, Autoimmune / Q000097:blood / Q000145:classification / Q000235:genetics*; D012859:Sjogren's Syndrome / Q000235:genetics; D013967:Thyroiditis, Autoimmune / Q000235:genetics; D013972:Thyrotropin / Q000097:blood
chemical_list: D001323:Autoantibodies; D001324:Autoantigens; D006680:HLA Antigens; D006728:Hormones; D013972:Thyrotropin