{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:38Z","timestamp":1784556998006,"version":"3.55.0"},"reference-count":12,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,10,1]]},"abstract":"Summary<\/jats:title>\n Aim: Differentiating familial cranial diabetes insipidus (CDI) from primary polydipsia can be difficult. We report the diagnostic utility of genetic testing as a means of confirming or excluding this diagnosis.<\/jats:p>\n Patient and methods: The index case presented at 3 months with polydipsia. He was diagnosed with familial CDI based on a positive family history combined with what was considered to be suspicious symptomatology and biochemistry. He was treated with desmopressin (DDAVP) but re-presented at 5 months of age with hyponatraemia and the DDAVP was stopped. Gene sequencing of the vasopressin gene in father and his offspring was undertaken to establish the underlying molecular defect.<\/jats:p>\n \n Results: Both father and daughter were found to have the pathogenic mutation c.242T>C (p.Leu81Pro) in exon 2 of the\n AVP<\/jats:italic>\n gene consistent with a diagnosis of familial diabetes insipidus. The index case did not have the pathogenic mutation and the family could be reassured that he would not require intervention with DDAVP.\n <\/jats:p>\n \n Conclusions: Gene sequencing of\n AVP<\/jats:italic>\n gene can have a valuable role in predicting whether or not a child is at risk of developing CDI in future. This can help to prevent family uncertainty and unnecessary treatment with its associated risks.\n <\/jats:p>\n \n Learning points<\/jats:title>\n \n \n \n Differentiating patients with familial cranial diabetes insipidus from those with primary polydipsia is not always straightforward.<\/jats:p>\n <\/jats:list-item>\n \n Molecular genetic analysis of the vasopressin gene is a valuable way of confirming or refuting a diagnosis of familial CDI in difficult cases and is a valuable way of identifying individuals who will develop CDI in later childhood. This information can be of great value to families.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/edm-13-0068","type":"journal-article","created":{"date-parts":[[2013,10,19]],"date-time":"2013-10-19T02:33:37Z","timestamp":1382150017000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":2,"title":["Utility of genetic testing in suspected familial cranial diabetes insipidus"],"prefix":"10.1530","volume":"2013","author":[{"given":"Ramesh","family":"Srinivasan","sequence":"first","affiliation":[{"name":"1 Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne Hospitals NHS Trust, Newcastle-upon-Tyne NE1 4LP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Ball","sequence":"additional","affiliation":[{"name":"2 Department of Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK"},{"name":"3 The Medical School, Newcastle University, Newcastle NE24HH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Ward-Platt","sequence":"additional","affiliation":[{"name":"4 Ward 35, Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Bourn","sequence":"additional","affiliation":[{"name":"5 The Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle-upon-Tyne NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ciaron","family":"McAnulty","sequence":"additional","affiliation":[{"name":"5 The Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle-upon-Tyne NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Cheetham","sequence":"additional","affiliation":[{"name":"1 Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne Hospitals NHS Trust, Newcastle-upon-Tyne NE1 4LP, UK"},{"name":"5 The Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle-upon-Tyne NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref11","first-page":"107","article-title":"Identification of 13 new mutations in the vasopressin\u2013neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus","volume":"58","year":"1996","journal-title":"American Journal of Human Genetics"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1046\/j.1365-2265.2003.01834.x","article-title":"Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin\u2013neurophysin II gene","volume":"59","year":"2003","journal-title":"Clinical Endocrinology"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1111\/j.1365-2265.2008.03303.x","article-title":"Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus","volume":"69","year":"2008","journal-title":"Clinical Endocrinology"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1046\/j.1365-2265.2003.01834.x","article-title":"Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin\u2013neurophysin II gene","volume":"59","year":"2003","journal-title":"Clinical Endocrinology"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1210\/jc.77.3.599a","article-title":"Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutations of and","author":"RobertsonGL","year":"1993","journal-title":"Journal Clinical Endocrinology Metabolism"},{"key":"ref31","first-page":"255","article-title":"Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients","volume":"60","year":"2008","journal-title":"Revista de Investigaci\u00f3n Cl\u00ednica"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1111\/j.1365-2265.2008.03303.x","article-title":"Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus","volume":"69","year":"2008","journal-title":"Clinical Endocrinology"},{"key":"ref81","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1210\/jc.77.3.599a","article-title":"Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutations of and","author":"RobertsonGL","year":"1993","journal-title":"Journal Clinical Endocrinology Metabolism"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.semnephrol.2006.03.003","article-title":"Familial neurohypophyseal diabetes insipidus \u2013 an update","volume":"26","year":"2006","journal-title":"Seminars in Nephrology"},{"key":"ref71","first-page":"107","article-title":"Identification of 13 new mutations in the vasopressin\u2013neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus","volume":"58","year":"1996","journal-title":"American Journal of Human Genetics"},{"key":"ref91","first-page":"255","article-title":"Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients","volume":"60","year":"2008","journal-title":"Revista de Investigaci\u00f3n Cl\u00ednica"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.semnephrol.2006.03.003","article-title":"Familial neurohypophyseal diabetes insipidus \u2013 an update","volume":"26","year":"2006","journal-title":"Seminars in Nephrology"}],"container-title":["Endocrinology, Diabetes & Metabolism Case 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