{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:38Z","timestamp":1784557058601,"version":"3.55.0"},"reference-count":26,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2018,4,17]],"date-time":"2018-04-17T00:00:00Z","timestamp":1523923200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/deed.en_GB"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,4,17]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>Hypogonadotrophic hypogonadism is due to impaired or reduced gonadotrophin secretion from the pituitary gland. In the absence of any anatomical or functional lesions of the pituitary or hypothalamic gland, the hypogonadotrophic hypogonadism is referred to as idiopathic hypogonadotrophic hypogonadism (IHH). We present a case of a young lady born to consanguineous parents who was found to have IHH due to a rare gene mutation.<\/jats:p>\n                  <jats:sec>\n                    <jats:title>Learning points:<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>The genetic basis of a majority of cases of IHH remains unknown.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>IHH can have different clinical endocrine manifestations.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Patients can present late to the healthcare service because of unawareness and stigmata associated with the clinical features.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Family members of affected individuals can be affected to varying degrees.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-18-0028","type":"journal-article","created":{"date-parts":[[2018,4,17]],"date-time":"2018-04-17T05:44:22Z","timestamp":1523943862000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":3,"title":["Normosmic idiopathic hypogonadotrophic hypogonadism due to a rare KISS1R gene mutation"],"prefix":"10.1530","volume":"2018","author":[{"given":"N","family":"Chelaghma","sequence":"first","affiliation":[{"name":"1Department of Endocrinology, Peterborough City Hospital, Peterborough, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Rajkanna","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Peterborough City Hospital, Peterborough, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Trotman","sequence":"additional","affiliation":[{"name":"2East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Fuller","sequence":"additional","affiliation":[{"name":"2East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Elsey","sequence":"additional","affiliation":[{"name":"2East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SM","family":"Park","sequence":"additional","affiliation":[{"name":"3Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SO","family":"Oyibo","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Peterborough City Hospital, Peterborough, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref01","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/nrendo.2009.177","article-title":"The genetic and molecular basis of idiopathic hypogonadotrophic hypogonadism","volume":"5","year":"2009","journal-title":"Nature Reviews Endocrinology"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1677\/JOE-10-0265","article-title":"Kisspeptin and fertility","volume":"208","year":"2011","journal-title":"Journal of Endocrinology"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1056\/NEJMoa1111184","article-title":"Inactivating KISS1 mutation and hypogonadotropic hypogonadism","volume":"366","year":"2012","journal-title":"New England Journal of Medicine"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/aja.2011.68","article-title":"New understandings of the genetic basis of isolated idiopathic central hypogonadism","volume":"14","year":"2012","journal-title":"Asian Journal of Andrology"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1136\/bmj.38982.704931.AE","article-title":"Genetic disorders in the Arab world","volume":"333","year":"2006","journal-title":"BMJ"},{"key":"ref161","first-page":"147893","article-title":"Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes","volume":"2012","year":"2012","journal-title":"International Journal of Endocrinology"},{"key":"ref201","first-page":"3","article-title":"VlietGBoulouxPHallJEHayesFJ Coding sequence analysis of GNRHR in patients with congenital and adult - 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