{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T02:34:05Z","timestamp":1755225245576,"version":"3.43.0"},"reference-count":18,"publisher":"The Endocrine Society","issue":"9","license":[{"start":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T00:00:00Z","timestamp":1753833600000},"content-version":"vor","delay-in-days":13,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Maturity-onset diabetes of the young type 5 (MODY5) is a rare form of monogenic diabetes caused by variants and deletions of the HNF1B gene. It is associated with a range of features including cystic renal disease, urogenital anomalies, and neurodevelopmental delay. Pregnancies in the presence of HNF1B gene variants and deletions have a significant risk of adverse maternal and fetal outcomes. Accurate diagnosis allows for genetic counseling, individualized therapies, and reproductive testing options. We report the case of a woman who was recognized as having MODY5 in her first pregnancy. The fetus inherited the gene variant and developed renal tract anomalies incompatible with ex utero life. The woman underwent in vitro fertilization with preimplantation genetic testing for a monogenic disorder (preimplantation genetic testing for monogenic\/single-gene defects) for her following pregnancy.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf165","type":"journal-article","created":{"date-parts":[[2025,7,14]],"date-time":"2025-07-14T14:01:47Z","timestamp":1752501707000},"source":"Crossref","is-referenced-by-count":0,"title":["A Diagnosis of Maturity-onset Diabetes of the Young Type 5 Provides Clarity and Broadens Reproductive Options"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-7639-8043","authenticated-orcid":false,"given":"Jennifer J","family":"Conn","sequence":"first","affiliation":[{"name":"Department of Diabetes and Endocrinology, The Royal Melbourne Hospital , Parkville 3050 ,","place":["Australia"]},{"name":"Diabetes Service, Royal Women's Hospital , Parkville 3052 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maie","family":"Walsh","sequence":"additional","affiliation":[{"name":"Clinical Genetics, The Royal Melbourne Hospital , Parkville 3050 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan C","family":"Kane","sequence":"additional","affiliation":[{"name":"Department of Maternal Fetal Medicine, The Royal Women's Hospital , Parkville 3052 ,","place":["Australia"]},{"name":"Department of Obstetrics, Gynaecology and Newborn Health, The University of Melbourne , Parkville 3052 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Hopkins","sequence":"additional","affiliation":[{"name":"Diabetes Service, Royal Women's Hospital , Parkville 3052 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary-Anne","family":"Papalia","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Sunshine Hospital , St Albans 3021 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah A L","family":"Price","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, The Royal Melbourne Hospital , Parkville 3050 ,","place":["Australia"]},{"name":"Diabetes Service, Royal Women's Hospital , Parkville 3052 ,","place":["Australia"]},{"name":"Department of Medicine, University of Melbourne , Parkville 3050 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,7,30]]},"reference":[{"issue":"11","key":"2025081304272409800_luaf165-B1","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.2337\/dc16-2462","article-title":"Diabetes, associated clinical spectrum, long-term prognosis, and genotype\/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B","volume":"40","author":"Dubois-Laforgue","year":"2017","journal-title":"Diabetes Care"},{"key":"2025081304272409800_luaf165-B2","doi-asserted-by":"crossref","first-page":"911526","DOI":"10.3389\/fendo.2022.911526","article-title":"The clinical characteristics and gene mutations of maturity-onset diabetes of the young type 5 in sixty-one patients","volume":"13","author":"Ge","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"10","key":"2025081304272409800_luaf165-B3","doi-asserted-by":"crossref","first-page":"3601","DOI":"10.1210\/jc.2018-00955","article-title":"17q12 deletion syndrome as a rare cause for diabetes mellitus type MODY5","volume":"103","author":"Roehlen","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2025081304272409800_luaf165-B4","first-page":"22","article-title":"Diabetes mellitus with renal and M\u00fcllerian anomalies","volume":"8","author":"Agarwal","year":"2022","journal-title":"AACE Clin Case Rep"},{"issue":"2","key":"2025081304272409800_luaf165-B5","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1177\/1753495X221109734","article-title":"Pregnancy outcome with maternal HNF1B gene mutations and 17q12 deletions","volume":"16","author":"Morton","year":"2023","journal-title":"Obstet Med"},{"issue":"1","key":"2025081304272409800_luaf165-B6","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/s125-002-8258-8","article-title":"A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes","volume":"45","author":"Carbone","year":"2002","journal-title":"Diabetologia"},{"issue":"7993","key":"2025081304272409800_luaf165-B7","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/s41586-023-06045-0","article-title":"A genomic mutational constraint map using variation in 76,156 human genomes","volume":"625","author":"Chen","year":"2024","journal-title":"Nature"},{"issue":"11","key":"2025081304272409800_luaf165-B8","doi-asserted-by":"crossref","first-page":"3126","DOI":"10.2337\/diabetes.54.11.3126","article-title":"Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5","volume":"54","author":"Bellann\u00e9-Chantelot","year":"2005","journal-title":"Diabetes"},{"issue":"10","key":"2025081304272409800_luaf165-B9","doi-asserted-by":"crossref","first-page":"e01150","DOI":"10.14309\/crj.0000000000001150","article-title":"Increased liver enzymes: an under-recognized finding in maturity-onset diabetes of the young type 5 (MODY 5)","volume":"10","author":"Veerareddy","year":"2023","journal-title":"ACG Case Rep J"},{"issue":"2","key":"2025081304272409800_luaf165-B10","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.tjog.2021.01.001","article-title":"Prenatal features of 17q12 microdeletion and microduplication syndromes: a retrospective case series","volume":"60","author":"Zhou","year":"2021","journal-title":"Taiwan J Obstet Gynecol"},{"issue":"4","key":"2025081304272409800_luaf165-B11","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1297\/cpe.30.179","article-title":"A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5","volume":"30","author":"Yoshida","year":"2021","journal-title":"Clin Pediatr Endocrinol"},{"issue":"1","key":"2025081304272409800_luaf165-B12","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s40842-020-00112-5","article-title":"The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)","volume":"6","author":"Nkonge","year":"2020","journal-title":"Clin Diabetes Endocrinol"},{"issue":"6","key":"2025081304272409800_luaf165-B13","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1111\/jdi.13036","article-title":"Maturity-onset diabetes of the young type 5 uncovered during pregnancy with a long-term diagnosis of type 1 diabetes","volume":"10","author":"Deng","year":"2019","journal-title":"J Diabetes Investig"},{"issue":"12","key":"2025081304272409800_luaf165-B14","doi-asserted-by":"crossref","first-page":"10012","DOI":"10.3390\/ijms241210012","article-title":"Anti-islet autoantibodies in type 1 diabetes","volume":"24","author":"Kawasaki","year":"2023","journal-title":"Int J Mol Sci"},{"issue":"4","key":"2025081304272409800_luaf165-B15","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/dme.12314","article-title":"Positivity for islet cell autoantibodies in patients with monogenic diabetes is associated with later diabetes onset and higher HbA1c level","volume":"31","author":"Urbanov\u00e1","year":"2014","journal-title":"Diabet Med"},{"issue":"4","key":"2025081304272409800_luaf165-B16","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1007\/s00404-022-06557-6","article-title":"Perinatal outcomes of women with M\u00fcllerian anomalies","volume":"307","author":"Wang","year":"2023","journal-title":"Arch Gynecol Obstet"},{"issue":"10","key":"2025081304272409800_luaf165-B17","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1007\/s00467-016-3421-6","article-title":"Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation","volume":"31","author":"Gondra","year":"2016","journal-title":"Pediatr Nephrol"},{"issue":"12","key":"2025081304272409800_luaf165-B18","doi-asserted-by":"crossref","first-page":"3130","DOI":"10.21037\/tp-21-386","article-title":"Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene","volume":"10","author":"Cleper","year":"2021","journal-title":"Transl Pediatr"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/9\/luaf165\/63886699\/luaf165.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/9\/luaf165\/63886699\/luaf165.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T08:27:30Z","timestamp":1755073650000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luaf165\/8218361"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,17]]},"references-count":18,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,7,17]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luaf165","relation":{},"ISSN":["2755-1520"],"issn-type":[{"type":"electronic","value":"2755-1520"}],"subject":[],"published-other":{"date-parts":[[2025,9]]},"published":{"date-parts":[[2025,7,17]]},"article-number":"luaf165"}}