Autoimmune polyendocrine syndrome type 2: Difference between revisions

Signs and symptoms that are consistent in an individual affected with autoimmune polyendocrine syndrome type 2 are the following:<ref name=gard/><ref name="emed">{{Cite web|url=http://emedicine.medscape.com/article/124287-clinical#showall|title=Type II Polyglandular Autoimmune Syndrome Clinical Presentation: History, Physical, Causes|website=emedicine.medscape.com|language=en|access-date=2017-04-13|archive-date=2017-04-14|archive-url=https://web.archive.org/web/20170414082432/http://emedicine.medscape.com/article/124287-clinical#showall|url-status=live}}</ref><ref name="pmid12817789">{{cite journal|vauthors=Betterle C, Zanchetta R|date=April 2003|title=Update on autoimmune polyendocrine syndromes (APS)|journal=Acta Biomed|volume=74|issue=1|pages=9–33|pmid=12817789}}<!--|access-date=2008-07-25--></ref>

In terms of genetics one finds that autoimmune polyendocrine syndrome type 2 has an [[autosomal dominant]] pattern of inheritance, with an incomplete penetrance.<ref>{{Cite journal|last1=Betterle|first1=Corrado|last2=Dal Pra|first2=Chiara|last3=Mantero|first3=Franco|last4=Zanchetta|first4=Renato|date=2002-06-01|title=Autoimmune Adrenal Insufficiency and Autoimmune Polyendocrine Syndromes: Autoantibodies, Autoantigens, and Their Applicability in Diagnosis and Disease Prediction|journal=Endocrine Reviews|volume=23|issue=3|pages=327–364|doi=10.1210/edrv.23.3.0466|pmid=12050123|issn=0163-769X|doi-access=free}}</ref><ref>{{Cite web|url=https://omim.org/entry/269200|title=OMIM Entry - % 269200 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2|website=omim.org|language=en-us|access-date=2017-04-13|archive-date=2019-12-15|archive-url=https://web.archive.org/web/20191215115622/https://omim.org/entry/269200|url-status=live}}</ref> Furthermore, the [[human leukocyte antigen]] involved in this condition are HLA-DQ2(DR3 (DQB*0201)) and HLA-DQ8(DR4 (DQB1*0302)),<ref>{{cite journal|last1=Majeroni|first1=BA|last2=Patel|first2=P|title=Autoimmune polyglandular syndrome, type II.|journal=American Family Physician|date=1 March 2007|volume=75|issue=5|pages=667–70|pmid=17375512|url=http://www.aafp.org/afp/2007/0301/p667.html|access-date=13 April 2017|language=en|archive-date=14 April 2017|archive-url=https://web.archive.org/web/20170414081810/http://www.aafp.org/afp/2007/0301/p667.html|url-status=live}}</ref> ''genetically speaking'', which indicates this is a multifactorial disorder, as well.<ref name=gard/><ref>{{Cite web|url=https://ghr.nlm.nih.gov/primer/mutationsanddisorders/complexdisorders|title=What are complex or multifactorial disorders?|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2017-04-19|archive-date=2017-04-19|archive-url=https://web.archive.org/web/20170419101324/https://ghr.nlm.nih.gov/primer/mutationsanddisorders/complexdisorders|url-status=live}}</ref>

In terms of [[genetic testing]], while it is done for ''type 1'' of this condition, ''type 2'' will only render (or identify) those genes which place the individual at higher risk.<ref>{{cite book|last1=Weiss|first1=Roy E.|last2=Refetoff|first2=Samuel|title=Genetic Diagnosis of Endocrine Disorders|date=2016|publisher=Academic Press|isbn=9780128011348|page=367|url=https://books.google.com/books?id=geScBAAAQBAJ&q=Autoimmune+polyendocrine+syndrome+type+2+diagnosis&pg=PA370|access-date=19 April 2017|language=en|archive-date=14 January 2023|archive-url=https://web.archive.org/web/20230114134015/https://books.google.com/books?id=geScBAAAQBAJ&q=Autoimmune+polyendocrine+syndrome+type+2+diagnosis&pg=PA370|url-status=live}}</ref> Other methods/exam to ascertain if an individual has autoimmune polyendocrine syndrome type 2 are:<ref name="bet">{{cite journal|last1=Betterle|first1=C|last2=Lazzarotto|first2=F|last3=Presotto|first3=F|title=Autoimmune polyglandular syndrome Type 2: the tip of an iceberg?|journal=Clinical and Experimental Immunology|date=19 April 2017|volume=137|issue=2|pages=225–233|doi=10.1111/j.1365-2249.2004.02561.x|issn=0009-9104|pmc=1809126|pmid=15270837}}</ref>