{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T16:35:50Z","timestamp":1782837350778,"version":"3.54.5"},"reference-count":12,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T00:00:00Z","timestamp":1759017600000},"content-version":"vor","delay-in-days":27,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Donohue syndrome (DS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in insulin receptor (INSR), leading to severe insulin resistance. It is characterized by extreme hyperinsulinemia, fasting hypoglycemia, postprandial hyperglycemia, severe growth restriction, and dysmorphic features, with a high mortality rate in the first year due to metabolic instability and infections. We report the case of a 3-month-old Honduran girl with a homozygous exon 14 deletion in INSR who presented with severe insulin resistance, metabolic dysregulation, and dysmorphic facial features. Despite treatment with octreotide, metformin, and maltodextrin, the patient\u2019s condition worsened, leading to septic shock, disseminated intravascular coagulation, and multiple organ failure. This case highlights the challenges in correlating genotype with phenotype in DS and emphasizes the importance of understanding how specific INSR mutations influence the treatment response and clinical outcomes.<\/jats:p>","DOI":"10.1093\/omcr\/omaf183","type":"journal-article","created":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T08:41:55Z","timestamp":1759048915000},"source":"Crossref","is-referenced-by-count":1,"title":["Donohue syndrome with a homozygous INSR exon 14 deletion: a case report"],"prefix":"10.1093","volume":"2025","author":[{"given":"Jos\u00e9 Daniel","family":"Almaz\u00e1n Monroy","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hospital Nacional Mario Catarino Rivas , 1st Street, Barrio El Play\u00f3n, San Pedro Sula , 21102,","place":["Honduras"]},{"name":"Instituto Hondure\u00f1o de Seguridad Social , Boulevard del Norte, San Pedro Sula , 21102,","place":["Honduras"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arodys Julianny","family":"Valle Martinez","sequence":"additional","affiliation":[{"name":"Instituto Hondure\u00f1o de Seguridad Social , Boulevard del Norte, San Pedro Sula , 21102,","place":["Honduras"]},{"name":"Department of Internal Medicine, Fundaci\u00f3n Ruth Paz , 7th-8th Street, 9th Avenue, Barrio Lempira, San Pedro Sula , 21104,","place":["Honduras"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara Elizabeth","family":"Milla Salguero","sequence":"additional","affiliation":[{"name":"M\u00e9dico General, Hospital Nacional Mario Catarino Rivas , 1st Street, Barrio El Play\u00f3n, San Pedro Sula , 21102,","place":["Honduras"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0991-8179","authenticated-orcid":false,"given":"Eduardo Smelin","family":"Perdomo Dom\u00ednguez","sequence":"additional","affiliation":[{"name":"GIMUNICAH, Faculty of Medicine, Universidad Cat\u00f3lica de Honduras , Colonia Zer\u00f3n, 12th Street, 21st Avenue, San Pedro Sula , 21101,","place":["Honduras"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,9,28]]},"reference":[{"key":"2025092804414620600_ref1","doi-asserted-by":"publisher","first-page":"e2710","DOI":"10.1097\/MD.0000000000002710","article-title":"Classic case report of Donohue syndrome (leprechaunism; 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