{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:45:57Z","timestamp":1787067957374,"version":"build-2736575974"},"reference-count":16,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,3,14]]},"abstract":"<jats:p>Mutations in hepatocyte nuclear factor-1\u03b2 gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and renal anomalies, usually bilateral multiple cysts are the most characteristic findings. Many of them have pancreatic structural abnormalities as well. A plethora of extrapancreatic manifestations like altered liver function tests, hypomagnesaemia, hyperuricaemia with\/without gout and urogenital malformations, particularly in females are also components of the syndrome. Structural malformation of male urogenital tract is rare in MODY 5, even rarer is asthenospermia. We encountered a young non-obese individual having insulin-requiring diabetes following secondary oral agent failure with primary male factor infertility secondary to asthenospermia. A suggestive family history, lack of acanthosis, negative pancreatic autoimmunity, hypomagnesaemia, bilateral renal and epididymal cysts, and absence of body and tail of pancreas pointed towards underlying MODY 5.<\/jats:p>","DOI":"10.1136\/bcr-2017-223723","type":"journal-article","created":{"date-parts":[[2018,3,24]],"date-time":"2018-03-24T01:25:51Z","timestamp":1521854751000},"page":"bcr-2017-223723","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease"],"prefix":"10.1136","volume":"2018","author":[{"given":"Partha Pratim","family":"Chakraborty","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinjan","family":"Patra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sugata Narayan","family":"Biswas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Himanshu","family":"Barman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2018,3,23]]},"reference":[{"key":"2025042703121564000_2018.mar23_1.bcr-2017-223723.1","first-page":"339","article-title":"Mild familial diabetes with dominant inheritance","volume":"43","author":"Tattersall","year":"1974","journal-title":"Q J Med"},{"key":"2025042703121564000_2018.mar23_1.bcr-2017-223723.2","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1586\/erm.10.123","article-title":"Role of molecular genetics in transforming diagnosis of diabetes mellitus","volume":"11","author":"Molven","year":"2011","journal-title":"Expert Rev Mol Diagn"},{"key":"2025042703121564000_2018.mar23_1.bcr-2017-223723.3","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2014.232"},{"key":"2025042703121564000_2018.mar23_1.bcr-2017-223723.4","doi-asserted-by":"crossref","first-page":"70","DOI":"10.4103\/0971-4065.139492","article-title":"Hepatocyte nuclear factor-1\u03b2: a regulator of kidney development and cystogenesis","volume":"25","author":"Singh","year":"2015","journal-title":"Indian J Nephrol"},{"key":"2025042703121564000_2018.mar23_1.bcr-2017-223723.5","first-page":"3326","article-title":"Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome\/maturity onset diabetes of the young type 5","volume":"123","author":"Chen","year":"2010","journal-title":"Chin Med J"},{"key":"2025042703121564000_2018.mar23_1.bcr-2017-223723.6","doi-asserted-by":"crossref","unstructured":"Misra S , Hattersley AT . et al Monogenic causes of diabetes. 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