{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T22:59:50Z","timestamp":1781564390056,"version":"3.54.5"},"reference-count":34,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T00:00:00Z","timestamp":1715990400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>(1) Background and objectives: Maturity-onset diabetes of the young (MODY) is a group of diabetes caused by gene defects related to insulin secretion. MODY1, MODY2, and MODY3 are the most common and account for approximately 80% of all cases. Other types are relatively rare. This study describes the clinical, analytical, and genetic characteristics of a patient with MODY10, and diabetic nephropathy, retinopathy, and functional hypogonadism diagnosis. (2) Materials and methods: A clinical case was analyzed and whole exome generation sequencing (WES) was used to detect mutations related to a monogenic variant. (3) Results: A seventeen-year-old male patient, who was diagnosed with apparent type 1 diabetes at the age of eight was started with insulin therapy. He came to the emergency room with glycemic decompensation, facial, and lower limb edema. During his evaluation, he had near-nephrotic range proteinuria of 2902 mg\/24 h, a kidney ultrasound showing mild pyelocalyceal dilation, proliferative diabetic retinopathy, and was also diagnosed with functional hypogonadotropic hypogonadism. These comorbidities improved with adequate glycemic control. WES showed missense variant c.94G&gt;A (p.Gly32Ser) in the INS gene, according to Clinvar corresponding to MODY10. It was a \u201cde novo\u201d variant not reported in his parents. (4) Conclusions: Monogenic diabetes (MD) is rare and MODY10 is among the less frequent types. MODY should be suspected in patients with type 1 phenotype with negative autoimmunity even in the absence of a family history of diabetes. To the best of our knowledge, we present here the first patient with these phenotypic traits of MODY10 reported in Latin America.<\/jats:p>","DOI":"10.3390\/medicina60050830","type":"journal-article","created":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T03:26:27Z","timestamp":1716261987000},"page":"830","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Diabetic Nephropathy, Retinopathy, and Functional Hypogonadism in a Patient with MODY10: A Case Report"],"prefix":"10.3390","volume":"60","author":[{"given":"Rossana","family":"Ruiz-Urbaez","sequence":"first","affiliation":[{"name":"Unit of Endocrinology and Diabetes, Eugenio Espejo Hospital, Quito 170403, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6838-1469","authenticated-orcid":false,"given":"Mariela Viviana","family":"Villag\u00f3mez-Estrada","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Dr. Jos\u00e9 Eleuterio Gonz\u00e1lez Hospital, Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1141-3279","authenticated-orcid":false,"given":"Carlos","family":"Reyes-Silva","sequence":"additional","affiliation":[{"name":"Unit of Genetic, Eugenio Espejo Hospital, Quito 170403, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darlyng","family":"Quishpe-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology and Diabetes, Eugenio Espejo Hospital, Quito 170403, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Males-Maldonado","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology and Diabetes, Eugenio Espejo Hospital, Quito 170403, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Salazar-Vega","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology and Diabetes, Eugenio Espejo Hospital, Quito 170403, Ecuador"},{"name":"Faculty of Medicine, Pontifical Catholic University of Ecuador, Quito 170143, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7123-6251","authenticated-orcid":false,"given":"Enrique","family":"Gea-Izquierdo","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Pontifical Catholic University of Ecuador, Quito 170143, Ecuador"},{"name":"Department of Medical Specialties and Public Health, Rey Juan Carlos University, 28922 Madrid, Spain"},{"name":"Mar\u00eda Zambrano Program-European Union, Rey Juan Carlos University, 28922 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Namazi, N., Moghaddam, S.S., Esmaeili, S., Peimani, M., Tehrani, Y.S., Bandarian, F., Shobeiri, P., Nasli-Esfahani, E., Malekpour, M.R., and Rezaei, N. 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