{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:50:18Z","timestamp":1747198218254,"version":"3.40.5"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2019-0503_abs_001_w2aab3b7c40b1b6b1aab1c16b2Aa\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Inherited severe insulin resistance syndromes (SIRS) are rare and can be caused by mutations in the insulin receptor gene (<jats:italic>INSR<\/jats:italic>).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0503_abs_002_w2aab3b7c40b1b6b1aab1c16b3Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 12-year-old Jamaican girl with a BMI of 24.4\u00a0kg\/m<jats:sup>2<\/jats:sup> presented with polyuria and polydipsia. A diagnosis of T1DM was made in view of hyperglycaemia (18\u00a0mmol\/l), and elevated Hba1<jats:sub>C<\/jats:sub> (9.9%), and insulin therapy was initiated. Over the next 2\u00a0years, she developed hirsutism and acanthosis nigricans, and had minimal insulin requirements with frequent post-prandial hypoglycaemia. In view of this, and her strong family history suggestive of a dominantly inherited type of diabetes, the diagnosis was revisited. Targeted next-generation sequencing (NGS) of the patient\u2019s monogenic diabetes genes was performed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0503_abs_003_w2aab3b7c40b1b6b1aab1c16b4Aa\">\n                  <jats:title>What is new?<\/jats:title>\n                  <jats:p>NGS revealed a <jats:italic>novel<\/jats:italic> heterozygous missense <jats:italic>INSR<\/jats:italic> variant, NM_000208.3:c.3471T&gt;G, p.(His1157Gln), confirming a diagnosis of Type A SIRS.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0503_abs_004_w2aab3b7c40b1b6b1aab1c16b5Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Type A SIRS can be difficult to differentially diagnose due to the variable phenotype. Features of insulin resistance may be absent at initial presentation and may develop later during pubertal progress. Awareness of the clinical features and comprehensive genetic testing are essential to identify the condition.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2019-0503","type":"journal-article","created":{"date-parts":[[2020,5,26]],"date-time":"2020-05-26T16:36:59Z","timestamp":1590511019000},"page":"809-812","source":"Crossref","is-referenced-by-count":2,"title":["A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome"],"prefix":"10.1515","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3096-0980","authenticated-orcid":false,"given":"Arameh S.","family":"Aghababaie","sequence":"first","affiliation":[{"name":"Paediatric Diabetes & Endocrinology Department , King\u2019s College Hospital , London , UK"},{"name":"Lewisham and Greenwich NHS Foundation Trust London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martha","family":"Ford-Adams","sequence":"additional","affiliation":[{"name":"King\u2019s College Hospital NHS Foundation Trust , London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles R.","family":"Buchanan","sequence":"additional","affiliation":[{"name":"King\u2019s College Hospital NHS Foundation Trust , London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ved B.","family":"Arya","sequence":"additional","affiliation":[{"name":"King\u2019s College Hospital NHS Foundation Trust , London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"Colclough","sequence":"additional","affiliation":[{"name":"Royal Devon & Exeter NHS Foundation Trust , London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritika R.","family":"Kapoor","sequence":"additional","affiliation":[{"name":"King\u2019s College Hospital NHS Foundation Trust , London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,5,22]]},"reference":[{"key":"2023040101344801285_j_jpem-2019-0503_ref_001_w2aab3b7c40b1b6b1ab2b1b1Aa","unstructured":"Harouch BS, Klar A, Zaccai TCF. 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