{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T19:39:28Z","timestamp":1789241968741,"version":"build-2803163510"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hormones"],"published-print":{"date-parts":[[2024,9]]},"DOI":"10.1007\/s42000-024-00580-9","type":"journal-article","created":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T06:01:50Z","timestamp":1720504910000},"page":"439-445","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Challenges in the management of patients with HNF1B MODY and multisystem manifestations: the cases of two adolescent boys"],"prefix":"10.1007","volume":"23","author":[{"given":"Aikaterini","family":"Vourdoumpa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4300-7061","authenticated-orcid":false,"given":"George","family":"Paltoglou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anny","family":"Mertzanian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amalia","family":"Sertedaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irini-Ikbale","family":"Sakou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Spyridon","family":"Karanasios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyriaki","family":"Karavanaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelia","family":"Charmandari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,9]]},"reference":[{"issue":"8","key":"580_CR1","doi-asserted-by":"publisher","first-page":"1188","DOI":"10.1111\/pedi.13426","volume":"23","author":"SAW Greeley","year":"2022","unstructured":"Greeley SAW, Polak M, Nj\u00f8lstad PR, Barbetti G, Williams R, Castano L et al (2022) ISPAD Clinical Practice Consensus guidelines 2022: the diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 23(8):1188\u20131211","journal-title":"Pediatr Diabetes"},{"key":"580_CR2","doi-asserted-by":"publisher","first-page":"253","DOI":"10.3389\/fendo.2018.00253","volume":"9","author":"P Firdous","year":"2018","unstructured":"Firdous P, Nissar K, Ali S, Ganai BA, Shabir U, Hassan T et al (2018) Genetic testing of maturity-onset diabetes of the Young Current Status and Future perspectives. Front Endocrinol 9:253","journal-title":"Front Endocrinol"},{"issue":"3","key":"580_CR3","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1210\/jc.2018-01696","volume":"104","author":"K Warncke","year":"2019","unstructured":"Warncke K, Kummer S, Raile K, Grulich-Henn J, Woelfle J, Steichen E et al (2019) Frequency and characteristics of MODY 1 (HNF4A mutation) and MODY 5 (HNF1B mutation): analysis from the DPV database. J Clin Endocrinol Metab 104(3):845\u2013855","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"580_CR4","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1038\/nrneph.2014.232","volume":"11","author":"RL Clissold","year":"2015","unstructured":"Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C (2015) HNF1B-associated renal and extra-renal disease\u2014an expanding clinical spectrum. Nat Rev Nephrol 11(2):102\u2013112","journal-title":"Nat Rev Nephrol"},{"issue":"Suppl 1","key":"580_CR5","first-page":"23","volume":"18","author":"R El-Khairi","year":"2016","unstructured":"El-Khairi R, Vallier L (2016) The role of hepatocyte nuclear factor 1\u03b2 in disease and development. Diabetes \u039fbes \u039cetab 18(Suppl 1):23\u201332","journal-title":"Diabetes \u039fbes \u039cetab"},{"issue":"5","key":"580_CR6","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1007\/s00467-015-3142-2","volume":"31","author":"D Bockenhauer","year":"2016","unstructured":"Bockenhauer D, Jaureguiberry G (2016) HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatr \u039dephrol 31(5):707\u2013714","journal-title":"Pediatr \u039dephrol"},{"issue":"24","key":"580_CR7","first-page":"3139","volume":"13","author":"E Barbacci","year":"2004","unstructured":"Barbacci E, Chalkiadaki A, Masdeu C, Haumaitre C, Lokmane L, Loirat C et al (2004) HNF1\u03b2\/TCF2 mutations impair transactivation potential through altered co-regulator recruitment. Hum \u039col Genet 13(24):3139\u20133149","journal-title":"Hum \u039col Genet"},{"issue":"11","key":"580_CR8","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.2337\/dc16-2462","volume":"40","author":"D Dubois-Laforgue","year":"2017","unstructured":"Dubois-Laforgue D, Cornu E, Saint-Martin C, Coste J, Bellann\u00e9-Chantelot C, Timsit J et al (2017) Diabetes, Associated Clinical Spectrum, Long-Term Prognosis, and Genotype\/Phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects. Diabetes Care 40(11):1436\u20131443","journal-title":"Diabetes Care"},{"issue":"8","key":"580_CR9","first-page":"3859","volume":"87","author":"H Furuta","year":"2002","unstructured":"Furuta H, Furuta M, Sanke T, Ekawa K, Hanabusa T, Nishi M et al (2002) Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. J Clin Endocrinol Metab 87(8):3859\u20133863","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"580_CR10","first-page":"114","volume":"30","author":"EL Edghill","year":"2013","unstructured":"Edghill EL, Stals K, Oram RA, Shepherd MH, Hattersley AT, Ellard S (2013) HNF1B deletions in patients with young-onset diabetes but no known renal disease. Diabet \u039ced 30(1):114\u2013117","journal-title":"Diabet \u039ced"},{"issue":"10","key":"580_CR11","doi-asserted-by":"publisher","first-page":"4055","DOI":"10.1210\/jc.2013-1279","volume":"98","author":"C Pihoker","year":"2013","unstructured":"Pihoker C, Gilliam LK, Ellard S, Dabelea D, Davis C, Dolan LM et al (2013) Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for diabetes in Youth. J Clin Endocrinol Metab 98(10):4055\u20134062","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"580_CR12","first-page":"637","volume":"20","author":"K M\u00f6nkem\u00f6ller","year":"2019","unstructured":"M\u00f6nkem\u00f6ller K, M\u00fcller-Godeffroy E, Lilienthal E, Heidtmann B, Becker M, Feldhahn L et al (2019) The association between socio-economic status and diabetes care and outcome in children with diabetes type 1 in Germany: the DIAS study (diabetes and social disparities). Pediatr Diabetes 20(5):637\u2013644","journal-title":"Pediatr Diabetes"},{"issue":"9","key":"580_CR13","doi-asserted-by":"publisher","first-page":"1304","DOI":"10.1016\/j.ekir.2019.05.019","volume":"4","author":"S Adalat","year":"2019","unstructured":"Adalat S, Hayes WN, Bryant WA, Booth J, Woolf AS, Kleta R et al (2019) HNF1B mutations are Associated with a Gitelman-like Tubulopathy that develops during Childhood. Kidney Int Rep 4(9):1304\u20131311","journal-title":"Kidney Int Rep"},{"key":"580_CR14","doi-asserted-by":"crossref","unstructured":"Ko\u0142buc M, Bienia\u015b B, Habbig S, Ko\u0142ek MF, Szczepa\u0144ska M, Kili\u015b-Pstrusi\u0144ska K et al (2021) Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited. J Clin Med. 10(15)","DOI":"10.3390\/jcm10153265"},{"issue":"4","key":"580_CR15","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1093\/ckj\/sfx150","volume":"11","author":"RL Clissold","year":"2018","unstructured":"Clissold RL, Fulford J, Hudson M, Shields BM, McDonald TJ, Ellard S et al (2018) Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1\u03b2-associated renal disease and can be symptomatic. Clin Kidney J 11(4):453\u2013458","journal-title":"Clin Kidney J"},{"issue":"10","key":"580_CR16","doi-asserted-by":"publisher","first-page":"4089","DOI":"10.1210\/jc.2012-3453","volume":"98","author":"S Ferr\u00e8","year":"2013","unstructured":"Ferr\u00e8 S, Bongers EMHF, Sonneveld R, Cornelissen EAM, van der Vlag J, van Boekel GAJ et al (2013) Early Development of Hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1\u03b2 mutations? J Clin Endocrinol Metab 98(10):4089\u20134096","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"580_CR17","doi-asserted-by":"publisher","first-page":"104264","DOI":"10.1016\/j.ejmg.2021.104264","volume":"64","author":"K Patouni","year":"2021","unstructured":"Patouni K, Cinek O, Pruhova S, Elblova L, Xatzipsalti M, Sertedaki A et al (2021) A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1\u0391 and HNF1\u0392 genes. Eur J Med Genet 64(9):104264","journal-title":"Eur J Med Genet"},{"issue":"11","key":"580_CR18","doi-asserted-by":"publisher","first-page":"2294","DOI":"10.1111\/j.1365-2648.2011.05697.x","volume":"67","author":"J Guo","year":"2011","unstructured":"Guo J, Whittemore R, He GP (2011) The relationship between diabetes self-management and metabolic control in youth with type 1 diabetes: an integrative review. J Adv Nurs 67(11):2294\u20132310","journal-title":"J Adv Nurs"},{"key":"580_CR19","doi-asserted-by":"publisher","first-page":"d4092","DOI":"10.1136\/bmj.d4092","volume":"343","author":"JA Usher-Smith","year":"2011","unstructured":"Usher-Smith JA, Thompson MJ, Sharp SJ, Walter FM (2011) Factors associated with the presence of diabetic ketoacidosis at diagnosis of diabetes in children and young adults: a systematic review. BMJ 343:d4092","journal-title":"BMJ"},{"issue":"3","key":"580_CR20","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1037\/fsh0000134","volume":"33","author":"AP Borschuk","year":"2015","unstructured":"Borschuk AP, Everhart RS (2015) Health disparities among youth with type 1 diabetes: a systematic review of the current literature. Fam Syst Health 33(3):297\u2013313","journal-title":"Fam Syst Health"},{"issue":"3","key":"580_CR21","doi-asserted-by":"publisher","first-page":"34","DOI":"10.4239\/wjd.v7.i3.34","volume":"7","author":"L Montesi","year":"2016","unstructured":"Montesi L, Caletti MT, Marchesini G (2016) Diabetes in migrants and ethnic minorities in a changing World. World J Diabetes 7(3):34\u201344","journal-title":"World J Diabetes"},{"issue":"5","key":"580_CR22","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1007\/s00125-017-4226-2","volume":"60","author":"AT Hattersley","year":"2017","unstructured":"Hattersley AT, Patel KA (2017) Precision diabetes: learning from monogenic diabetes. Diabetologia 60(5):769\u2013777","journal-title":"Diabetologia"},{"issue":"5","key":"580_CR23","doi-asserted-by":"publisher","first-page":"1265","DOI":"10.1007\/s00125-011-2418-8","volume":"55","author":"BM Shields","year":"2012","unstructured":"Shields BM, McDonald TJ, Ellard S, Campbell MJ, Hyde C, Hattersley AT (2012) The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia 55(5):1265\u20131272","journal-title":"Diabetologia"},{"issue":"6","key":"580_CR24","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1038\/gim.2017.150","volume":"20","author":"JW Kleinberger","year":"2018","unstructured":"Kleinberger JW, Copeland KC, Gandica RG, Haymond MW, Levitsky LL, Linder B et al (2018) Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial. Genet Med 20(6):583\u2013590","journal-title":"Genet Med"},{"issue":"20","key":"580_CR25","doi-asserted-by":"publisher","first-page":"9436","DOI":"10.3390\/app11209436","volume":"11","author":"A Tshivhase","year":"2021","unstructured":"Tshivhase A, Matsha T, Raghubeer S (2021) Diagnosis and treatment of MODY: an updated Mini Review. Appl Sci 11(20):9436","journal-title":"Appl Sci"}],"container-title":["Hormones"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s42000-024-00580-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s42000-024-00580-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s42000-024-00580-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T07:20:46Z","timestamp":1727421646000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s42000-024-00580-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,9]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["580"],"URL":"https:\/\/doi.org\/10.1007\/s42000-024-00580-9","relation":{},"ISSN":["1109-3099","2520-8721"],"issn-type":[{"value":"1109-3099","type":"print"},{"value":"2520-8721","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,9]]},"assertion":[{"value":"25 June 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 June 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not required for a case report from our institutions.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Written informed consent was obtained from the patients and their parents or legal guardians prior to the writing of this case report.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The authors declare no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}]}}