{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T18:54:51Z","timestamp":1793040891401,"version":"4.5.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2003,7,1]]},"abstract":"<jats:p>BACKGROUND: The term congenital hyperinsulinism (CHI) comprises a group of different genetic disorders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia. OBJECTIVE: To evaluate the clinical presentation, diagnostic criteria, treatment and long-term follow-up in a large cohort of CHI patients. PATIENTS: The data from 114 patients from different hospitals were obtained by a detailed questionnaire. Patients presented neonatally (65%), during infancy (28%) or during childhood (7%). RESULTS: In 20 of 74 (27%) patients with neonatal onset birth weight was greatly increased (group with standard deviation scores (SDS) &gt;2.0) with a mean SDS of 3.2. Twenty-nine percent of neonatal-onset vs 69% of infancy\/childhood-onset patients responded to diazoxide and diet or to a carbohydrate-enriched diet alone. Therefore, we observed a high rate of pancreatic surgery performed in the neonatal-onset group (70%) compared with the infancy\/childhood-onset group (28%). Partial (3%), subtotal (37%) or near total (15%) pancreatectomy was performed. After pancreatic surgery there appeared a high risk of persistent hypoglycemia (40%). Immediately post-surgery or with a latency of several Years insulin-dependent diabetes mellitus was observed in operated patients (27%). General outcome was poor with a high degree of psychomotor or mental retardation (44%) or epilepsy (25%). An unfavorable outcome correlated with infancy-onset manifestation (chi(2)=6.1, P=0.01). CONCLUSIONS: The high degree of developmental delay, in particular in infancy-onset patients emphasizes the need for a change in treatment strategies to improve the unfavorable outcome. Evaluation of treatment alternatives should take the high risk of developing diabetes mellitus into account.<\/jats:p>","DOI":"10.1530\/eje.0.1490043","type":"journal-article","created":{"date-parts":[[2005,1,24]],"date-time":"2005-01-24T21:34:41Z","timestamp":1106602481000},"page":"43-51","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":157,"title":["Long-term follow-up of 114 patients with congenital hyperinsulinism"],"prefix":"10.1093","author":[{"given":"T","family":"Meissner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U","family":"Wendel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Burgard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Schaetzle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Mayatepek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/149\/1\/43.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/149\/1\/43.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:32:31Z","timestamp":1676392351000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/149\/1\/43\/6753399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7,1]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1530\/eje.0.1490043","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7,1]]}}}