{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T15:21:05Z","timestamp":1760368865381,"version":"3.44.0"},"reference-count":33,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2010,5,1]],"date-time":"2010-05-01T00:00:00Z","timestamp":1272672000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,5,1]],"date-time":"2010-05-01T00:00:00Z","timestamp":1272672000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annales d'Endocrinologie"],"published-print":{"date-parts":[[2010,5]]},"DOI":"10.1016\/j.ando.2010.02.017","type":"journal-article","created":{"date-parts":[[2010,4,6]],"date-time":"2010-04-06T20:08:31Z","timestamp":1270584511000},"page":"222-224","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"title":["What have we learned form monogenic forms of severe insulin resistance associated with PCOS\/HAIRAN?"],"prefix":"10.1016","volume":"71","author":[{"given":"C.","family":"Vigouroux","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ando.2010.02.017_bib1","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1056\/NEJM197604012941401","article-title":"The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man","volume":"294","author":"Kahn","year":"1976","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ando.2010.02.017_bib2","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1210\/edrv.20.4.0374","article-title":"The insulin-related ovarian regulatory system in health and disease","volume":"20","author":"Poretsky","year":"1999","journal-title":"Endocr Rev"},{"key":"10.1016\/j.ando.2010.02.017_bib3","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1126\/science.170678","article-title":"Antibodies that impair insulin receptor binding in an unusual diabetic syndrome with severe insulin resistance","volume":"190","author":"Flier","year":"1975","journal-title":"Science"},{"key":"10.1016\/j.ando.2010.02.017_bib4","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1056\/NEJM198812083192306","article-title":"Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance)","volume":"319","author":"Moller","year":"1988","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ando.2010.02.017_bib5","first-page":"3197","article-title":"Antiinsulin receptor autoantibodies induce insulin receptors to constitutively associate with insulin receptor substrate-1 and -2 and cause severe cell resistance to both insulin and insulin-like growth factor\u00a0I","volume":"84","author":"Auclair","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.02.017_bib6","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1056\/NEJMra025261","article-title":"Acquired and inherited lipodystrophies","volume":"350","author":"Garg","year":"2004","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ando.2010.02.017_bib7","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1038\/ng585","article-title":"Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13","volume":"28","author":"Magr\u00e9","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.ando.2010.02.017_bib8","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ng880","article-title":"AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34","volume":"31","author":"Agarwal","year":"2002","journal-title":"Nat Genet"},{"key":"10.1016\/j.ando.2010.02.017_bib9","doi-asserted-by":"crossref","first-page":"20890","DOI":"10.1073\/pnas.0704154104","article-title":"The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology","volume":"104","author":"Szymanski","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ando.2010.02.017_bib10","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1083\/jcb.200711136","article-title":"Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast","volume":"180","author":"Fei","year":"2008","journal-title":"J Cell Biol"},{"key":"10.1016\/j.ando.2010.02.017_bib11","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.2337\/db08-0184","article-title":"The human lipodystrophy gene BSCL2\/seipin may be essential for normal adipocyte differentiation","volume":"57","author":"Payne","year":"2008","journal-title":"Diabetes"},{"key":"10.1016\/j.ando.2010.02.017_bib12","doi-asserted-by":"crossref","first-page":"4552","DOI":"10.1210\/en.2009-0236","article-title":"The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2\/seipin plays a key role in adipocyte differentiation","volume":"150","author":"Chen","year":"2009","journal-title":"Endocrinology"},{"key":"10.1016\/j.ando.2010.02.017_bib13","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1210\/jc.2007-1328","article-title":"Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy","volume":"93","author":"Kim","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.02.017_bib14","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/j.biochi.2009.01.011","article-title":"Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy","volume":"91","author":"Boutet","year":"2009","journal-title":"Biochimie"},{"key":"10.1016\/j.ando.2010.02.017_bib15","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/emmm.200900037","article-title":"Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC","volume":"1","author":"Rubio-Cabezas","year":"2009","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.ando.2010.02.017_bib16","doi-asserted-by":"crossref","first-page":"2623","DOI":"10.1172\/JCI38660","article-title":"Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy","volume":"119","author":"Hayashi","year":"2009","journal-title":"J Clin Invest"},{"key":"10.1016\/j.ando.2010.02.017_bib17","first-page":"1533","article-title":"Insulin-mediated pseudoacromegaly: Clinical and biochemical characterization of a syndrome of selective insulin resistance","volume":"76","author":"Flier","year":"1993","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.02.017_bib18","first-page":"315","article-title":"Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis","volume":"119","author":"Semple","year":"2009","journal-title":"J Clin Invest"},{"key":"10.1016\/j.ando.2010.02.017_bib19","doi-asserted-by":"crossref","first-page":"2284","DOI":"10.2337\/dc08-0532","article-title":"First evidence of genetic association between AKT2 and polycystic ovary syndrome","volume":"31","author":"Goodarzi","year":"2008","journal-title":"Diabetes Care"},{"issue":"(Suppl) 1","key":"10.1016\/j.ando.2010.02.017_bib20","doi-asserted-by":"crossref","first-page":"S13","DOI":"10.1016\/j.fertnstert.2006.04.011","article-title":"Insulin resistance in women with polycystic ovary syndrome","volume":"86","author":"Dunaif","year":"2006","journal-title":"Fertil Steril"},{"key":"10.1016\/j.ando.2010.02.017_bib21","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.molmed.2006.05.006","article-title":"Molecular mechanisms of insulin resistance in polycystic ovary syndrome","volume":"12","author":"Diamanti-Kandarakis","year":"2006","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.ando.2010.02.017_bib22","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1111\/j.1365-2265.2005.02302.x","article-title":"Clinical evidence that hyperinsulinaemia independent of gonadotropins stimulates ovarian growth","volume":"63","author":"Musso","year":"2005","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.ando.2010.02.017_bib23","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1093\/humrep\/dei455","article-title":"Follow-up study of two sisters with type\u00a0A syndrome of severe insulin resistance gives a new insight into PCOS pathogenesis in relation to puberty and pregnancy outcome: A case report","volume":"21","author":"Vambergue","year":"2006","journal-title":"Hum Reprod"},{"key":"10.1016\/j.ando.2010.02.017_bib24","doi-asserted-by":"crossref","first-page":"3110","DOI":"10.1210\/jcem.87.7.8591","article-title":"Effect of leptin replacement on pituitary hormone regulation in patients with severe lipodystrophy","volume":"87","author":"Oral","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.02.017_bib25","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.metabol.2004.08.021","article-title":"The long-term effect of recombinant methionyl human leptin therapy on hyperandrogenism and menstrual function in female and pituitary function in male and female hypoleptinemic lipodystrophic patients","volume":"54","author":"Musso","year":"2005","journal-title":"Metabolism"},{"key":"10.1016\/j.ando.2010.02.017_bib26","doi-asserted-by":"crossref","first-page":"e291","DOI":"10.1542\/peds.2006-3165","article-title":"Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy","volume":"120","author":"Beltrand","year":"2007","journal-title":"Pediatrics"},{"key":"10.1016\/j.ando.2010.02.017_bib27","doi-asserted-by":"crossref","first-page":"3219","DOI":"10.1210\/jc.2006-0166","article-title":"Elevated plasma adiponectin in humans with genetically defective insulin receptors","volume":"91","author":"Semple","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.02.017_bib28","doi-asserted-by":"crossref","first-page":"977","DOI":"10.2337\/dc07-2194","article-title":"Plasma adiponectin as a marker of insulin receptor dysfunction: Clinical utility in severe insulin resistance","volume":"31","author":"Semple","year":"2008","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ando.2010.02.017_bib29","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1210\/jcem.85.2.6392","article-title":"Normal reproductive function in leptin-deficient patients with lipoatropic diabetes","volume":"85","author":"Andreelli","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.02.017_bib30","doi-asserted-by":"crossref","first-page":"5596","DOI":"10.1210\/jc.2005-1083","article-title":"Absence of polycystic ovary syndrome features in human immunodeficiency virus-infected women despite significant hyperinsulinemia and truncal adiposity","volume":"90","author":"Johnsen","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.02.017_bib31","doi-asserted-by":"crossref","first-page":"4835","DOI":"10.1210\/jc.2007-0654","article-title":"New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome","volume":"92","author":"Decaudain","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2010.02.017_bib32","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1097\/AOG.0b013e31819feaa9","article-title":"Lipodystrophy: An unusual diagnosis in a case of oligomenorrhea and hirsutism","volume":"114","author":"Keller","year":"2009","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.ando.2010.02.017_bib33","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.2337\/diabetes.54.6.1873","article-title":"Type A insulin resistance syndrome revealing a novel lamin A mutation","volume":"54","author":"Young","year":"2005","journal-title":"Diabetes"}],"container-title":["Annales d'Endocrinologie"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000342661000051X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000342661000051X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T22:44:31Z","timestamp":1757717071000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000342661000051X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5]]},"references-count":33,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,5]]}},"alternative-id":["S000342661000051X"],"URL":"https:\/\/doi.org\/10.1016\/j.ando.2010.02.017","relation":{},"ISSN":["0003-4266"],"issn-type":[{"type":"print","value":"0003-4266"}],"subject":[],"published":{"date-parts":[[2010,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"What have we learned form monogenic forms of severe insulin resistance associated with PCOS\/HAIRAN?","name":"articletitle","label":"Article Title"},{"value":"Annales d'Endocrinologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ando.2010.02.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}