{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T14:10:12Z","timestamp":1717510212194},"reference-count":31,"publisher":"FapUNIFESP (SciELO)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:p>Maturity Onset Diabetes of Young (MODY) is a heterogeneous group of monogenic disorders that result in \u03b2-cell dysfunction, with an estimated prevalence of 1%-2% in industrialized countries. MODY generally occurs in non-obese patients with negative autoantibodies presenting with mild to moderate hyperglycemia. The clinical features of the patients are heterogeneous, depending on the different genetic subtypes. We pretend to report a case of MODY type 2 caused by a novel de novo CGK mutation, highlighting the importance of the differential diagnosis in pediatric diabetes. A 13-year-old, healthy and non-obese girl was admitted for investigation of recurrent hyperglycemia episodes. She presented with persistent high levels of fasting blood glycemia (&gt; 11.1 mmol\/L) and had no familial history of diabetes. The blood glucose pro\ufb01le revealed an impaired fasting glucose of 124 mg\/dL (6,9 mmol\/L) with a normal oral glucose tolerance test. Fasting insulinemia was 15 mg\/dL (90.1 pmol\/L), HOMA-IR was 3.9 and hemoglobin A1c was 7.1%. Pancreatic autoantibodies were negative. Genetic testing identified a novel missense heterozygous mutation in exon 5 of GCK gene c.509G &gt; T (p.Gly170Val), not present on the parents. This result established the diagnosis of MODY type 2. Clinical identification of patients with MODY remains a diagnostic challenge, especially when familial history is absent. Molecular diagnosis is very important for establishing an individualized treatment and providing a long term prognosis for each type of MODY.<\/jats:p>","DOI":"10.1590\/0004-2730000003147","type":"journal-article","created":{"date-parts":[[2014,10,29]],"date-time":"2014-10-29T18:28:46Z","timestamp":1414607326000},"page":"772-775","source":"Crossref","is-referenced-by-count":2,"title":["Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation"],"prefix":"10.1590","volume":"58","author":[{"given":"Paula","family":"Afonso","sequence":"first","affiliation":[{"name":"Hospital Nossa Senhora do Ros\u00e1rio, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N\u00e9lia","family":"Ferraria","sequence":"additional","affiliation":[{"name":"Hospital Nossa Senhora do Ros\u00e1rio, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Hospital Nossa Senhora do Ros\u00e1rio, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia Vidal","family":"Castro","sequence":"additional","affiliation":[{"name":"Hospital Nossa Senhora do Ros\u00e1rio, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"issue":"8950","key":"ref1","doi-asserted-by":"crossref","DOI":"10.1016\/S0140-6736(95)90548-0","article-title":"Is maturity onset diabetes at young age (MODY) more common in Europe than previously assumed?","volume":"345","author":"Ledermann HM","year":"1995","journal-title":"Lancet"},{"issue":"170","key":"ref2","first-page":"339","article-title":"Mild familial diabetes with dominant inheritance","volume":"43","author":"Tattersall RB","year":"1974","journal-title":"Q J Med"},{"issue":"1","key":"ref3","doi-asserted-by":"crossref","first-page":"44","DOI":"10.2337\/diab.24.1.44","article-title":"A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes 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