{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T19:23:22Z","timestamp":1792265002863,"version":"4.4.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,11,27]],"date-time":"2019-11-27T00:00:00Z","timestamp":1574812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,11,27]],"date-time":"2019-11-27T00:00:00Z","timestamp":1574812800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Type A insulin resistance syndrome, one type of the hereditary insulin resistance syndromes, is a rare disorder. Patients with type A insulin resistance syndrome are nonobese and demonstrate severe hyperinsulinemia, hyperandrogenism, and acanthosis nigricans. The clinical features are more severe in affected females than in males, and they mostly become apparent at the age of puberty. In many cases, when severe insulin resistance is covered up by other signs or symptoms of type A insulin resistance syndrome, patients are often easily misdiagnosed with other diseases, such as polycystic ovary syndrome.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>Our patient was a 27-year-old Han Chinese woman who sought treatment because of a menstrual disorder and hirsutism. Tests showed that her levels of insulin and testosterone were elevated, and gynecological color Doppler ultrasound suggested multiple cystic changes in the bilateral ovaries. After a diagnosis of polycystic ovary syndrome was made, pulsatile gonadotropin-releasing hormone therapy and metformin were administered, but the patient\u2019s symptoms did not improve in 1 year of follow-up. Considering that the previous diagnosis might have been incorrect, venous blood samples were collected from the patient and her relatives for genetic analysis. Subsequently, using Illumina sequencing, it was found that the proband, her father, and two brothers all had the c.3601C&gt;T heterozygous missense mutation in exon 20 of the insulin receptor gene. The diagnosis was corrected to type A insulin resistance syndrome, and the patient\u2019s treatment was modified.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>We report a case of a young woman with type A insulin resistance syndrome that was misdiagnosed as polycystic ovary syndrome. We discuss the causes, clinical features, diagnosis, and treatment of type A insulin resistance syndrome to improve the recognition of the disease and reduce its misdiagnosis. Female patients with high androgen levels and severe hyperinsulinemia should be considered for the possibility of hereditary insulin resistance syndromes (such as type A insulin resistance syndrome). Gene sequencing helps in making an early diagnosis and developing a targeted treatment strategy.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s13256-019-2304-4","type":"journal-article","created":{"date-parts":[[2019,11,27]],"date-time":"2019-11-27T01:02:40Z","timestamp":1574816560000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Type A insulin resistance syndrome misdiagnosed as polycystic ovary syndrome: a case report"],"prefix":"10.1186","volume":"13","author":[{"given":"Lu","family":"Lin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cunren","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuanyu","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daoxiong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaining","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huibiao","family":"Quan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,11,27]]},"reference":[{"key":"2304_CR1","unstructured":"U.S. National Library of Medicine Genetics Home Reference. Type A insulin resistance syndrome. https:\/\/ghr.nlm.nih.gov\/condition\/type-a-insulin-resistance-syndrome#statistics. Accessd June 2019."},{"issue":"Suppl 2","key":"2304_CR2","doi-asserted-by":"publisher","first-page":"S135","DOI":"10.1055\/s-2001-18576","volume":"109","author":"H Lebovitz","year":"2001","unstructured":"Lebovitz H. Insulin resistance: definition and consequences. Exp Clin Endocrinol Diabetes. 2001;109(Suppl 2):S135\u201348.","journal-title":"Exp Clin Endocrinol Diabetes"},{"issue":"12","key":"2304_CR3","doi-asserted-by":"publisher","first-page":"1351","DOI":"10.1002\/bies.20151","volume":"26","author":"P De Meyts","year":"2004","unstructured":"De Meyts P. Insulin and its receptor: structure, function and evolution. Bioessays. 2004;26(12):1351\u201362.","journal-title":"Bioessays"},{"key":"2304_CR4","unstructured":"OMIM accession no. 147670: Insulin receptor. http:\/\/omim.org\/entry\/147670. Accessd June 2019."},{"issue":"6","key":"2304_CR5","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.1210\/jcem-73-6-1158","volume":"73","author":"SI Taylor","year":"1991","unstructured":"Taylor SI, Cama A, Accili D, Barbetti F, Imano E, Kadowaki H, Kadowaki T. Genetic basis of endocrine disease. 1. Molecular genetics of insulin resistant diabetes mellitus. J Clin Endocrinol Metab. 1991;73(6):1158\u201363.","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"2304_CR6","doi-asserted-by":"publisher","first-page":"4251","DOI":"10.1210\/jc.2003-030034","volume":"88","author":"JA Maassen","year":"2003","unstructured":"Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D\u2019Haens E, Kleijer WJ, F\u00e9ry F, van der Zon GC. Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab. 2003;88(9):4251\u20137.","journal-title":"J Clin Endocrinol Metab"},{"key":"2304_CR7","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1097\/01.md.0000133625.73570.54","volume":"83","author":"C Musso","year":"2004","unstructured":"Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P. Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore). 2004;83:209\u201322.","journal-title":"Medicine (Baltimore)"},{"issue":"1","key":"2304_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3760\/cma.j.issn.1000-6699.2018.01.001","volume":"34","author":"Department of Endocrinology and Metabolism, Chinese Medical Doctor Association","year":"2018","unstructured":"Department of Endocrinology and Metabolism, Chinese Medical Doctor Association. Consensus of endocrine experts in diagnosis and treatment of polycystic ovary syndrome. Chin J Endocrinol Metab. 2018;34(1):1\u20137. https:\/\/doi.org\/10.3760\/cma.j.issn.1000-6699.2018.01.001.","journal-title":"Chin J Endocrinol Metab"},{"issue":"12","key":"2304_CR9","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.1093\/hmg\/11.12.1465","volume":"11","author":"N Longo","year":"2002","unstructured":"Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D. Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet. 2002;11(12):1465\u201375.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"2304_CR10","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1111\/1753-0407.12797","volume":"11","author":"K Takasawa","year":"2019","unstructured":"Takasawa K, Tsuji-Hosokawa A, Takishima S, Wada Y, Nagasaki K, Dateki S, Numakura C, Hijikata A, Shirai T, Kashimada K, Morio T. Clinical characteristics of adolescent cases with type A insulin resistance syndrome caused by heterozygous mutations in the \u03b2-subunit of the insulin receptor (INSR) gene. J Diabetes. 2019;11(1):46\u201354.","journal-title":"J Diabetes"},{"issue":"4913","key":"2304_CR11","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1126\/science.2662406","volume":"245","author":"CR Kahn","year":"1989","unstructured":"Kahn CR, Goldstein BJ. Molecular defects in insulin action. Science. 1989;245(4913):13.","journal-title":"Science"},{"issue":"4913","key":"2304_CR12","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1126\/science.2544997","volume":"245","author":"M Taira","year":"1989","unstructured":"Taira M, Hashimoto N, Shimada F, Suzuki Y, Kanatsuka A, Nakamura F, Ebina Y, Tatibana M, Makino H, et al. Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor. Science. 1989;245(4913):63\u20136.","journal-title":"Science"},{"issue":"4","key":"2304_CR13","doi-asserted-by":"publisher","first-page":"R71","DOI":"10.1530\/EJE-13-0327","volume":"169","author":"VER Parker","year":"2013","unstructured":"Parker VER, Semple RK. Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know. Eur J Endocrinol. 2013;169(4):R71\u201380.","journal-title":"Eur J Endocrinol"},{"issue":"3","key":"2304_CR14","first-page":"237","volume":"21","author":"C Pang","year":"2005","unstructured":"Pang C, Huang Z, Zhu H, Yu Q, Yan J, Liao Z, Hu G, Weng J. Research of type A insulin resistance family and insulin receptor gene mutation in Chinese population. Chin J Endocrinol Metab. 2005;21(3):237\u20139.","journal-title":"Chin J Endocrinol Metab"},{"key":"2304_CR15","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1111\/pedi.12192","volume":"15","author":"O Rubio-Cabezas","year":"2014","unstructured":"Rubio-Cabezas O, Hattersley AT, Nj\u00f8lstad PR, Mlynarski W, Ellard S, White N, Chi DV, Craig ME, International Society for Pediatric and Adolescent Diabetes. ISPAD Clinical Practice Consensus Guidelines 2014: the diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2014;15:47\u201364.","journal-title":"Pediatr Diabetes"},{"issue":"8","key":"2304_CR16","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1111\/pedi.12486","volume":"18","author":"C Wei","year":"2017","unstructured":"Wei C, Burren CP. Diagnostic and management challenges from childhood, puberty through to transition in severe insulin resistance due to insulin receptor mutations. Pediatr Diabetes. 2017;18(8):835\u20138.","journal-title":"Pediatr Diabetes"},{"issue":"3","key":"2304_CR17","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1111\/j.1365-2265.2010.03810.x","volume":"73","author":"RK Semple","year":"2010","unstructured":"Semple RK, Williams RM, Dunger DB. What is the best management strategy for patients with severe insulin resistance? Clin Endocrinol. 2010;73(3):286\u201390.","journal-title":"Clin Endocrinol"},{"issue":"5","key":"2304_CR18","doi-asserted-by":"publisher","first-page":"2113","DOI":"10.1210\/jc.2009-2088","volume":"95","author":"FM Regan","year":"2010","unstructured":"Regan FM, Williams RM, McDonald A, Umpleby AM, Acerini CL, O\u2019Rahilly S, Hovorka R, Semple RK, Dunger DB. Treatment with recombinant human insulin-like growth factor (rhIGF)-I\/rhIGF binding protein-3 complex improves metabolic control in subjects with severe insulin resistance. J Clin Endocrinol Metab. 2010;95(5):2113\u201322.","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-019-2304-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13256-019-2304-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-019-2304-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,26]],"date-time":"2020-11-26T00:28:46Z","timestamp":1606350526000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-019-2304-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,27]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["2304"],"URL":"https:\/\/doi.org\/10.1186\/s13256-019-2304-4","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,27]]},"assertion":[{"value":"3 October 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 October 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 November 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"347"}}