{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T08:59:18Z","timestamp":1780995558274,"version":"3.54.1"},"reference-count":13,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"content-version":"vor","delay-in-days":20,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Juvenile hemochromatosis (JH) is a rare disorder caused by iron metabolism errors that lead to severe iron loading and organ failure in young adults before 30 years of age. We report a challenging case of a 26-year-old female whose diagnosis was delayed by nearly a decade due to deceptively nonspecific symptoms. She initially presented with oligomenorrhea at age 18 and was misdiagnosed with polycystic ovary syndrome (PCOS). Subsequent work-up for primary infertility revealed idiopathic hypogonadotropic hypogonadism (IHH). She progressively developed insulin-dependent diabetes mellitus and life-threatening sudden heart failure, necessitating an urgent cardiac transplant. Genetic evaluation confirmed JH (type 2A), identifying a homozygous likely pathogenic variant in the hemojuvelin (HJV) gene c.1006G &amp;gt; T (p.Gly336Ter), reported in only 4 cases within the Indian population. This case underscores a critical clinical lesson: the simple failure to perform a routine, inexpensive ferritin test can allow JH to slip until it causes fatal multi-organ damage. We conclude that any young patient presenting with type D PCOS (non-hyperandrogenic), IHH, young-onset heart failure, or atypical diabetes must be screened for iron overload even in the absence of classical symptoms to prevent irreversible consequences. Early genetic testing should be considered.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag159","type":"journal-article","created":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T11:18:35Z","timestamp":1779794315000},"source":"Crossref","is-referenced-by-count":0,"title":["Delayed diagnosis of juvenile hemochromatosis due to missed ferritin testing in a case of hypogonadotropic hypogonadism"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2307-3256","authenticated-orcid":false,"given":"Purnima","family":"Agarwal","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Vardhman Mahavir Medical College & Safdarjung Hospital , New Delhi 110029 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0822-3212","authenticated-orcid":false,"given":"Ambrish","family":"Mithal","sequence":"additional","affiliation":[{"name":"Institute of Endocrinology and Diabetes, Max Super-Specialty Hospital , New Delhi 110017 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Komarakshi","family":"Balakrishnan","sequence":"additional","affiliation":[{"name":"Institute of Heart and Lung Transplant and Mechanical Circulatory Support, MGM Healthcare , Chennai 600029, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murali Krishna","family":"Tanguturu","sequence":"additional","affiliation":[{"name":"Institute of Heart and Lung Transplant and Mechanical Circulatory Support, MGM Healthcare , Chennai 600029, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suresh Rao Kemundel","family":"Genny","sequence":"additional","affiliation":[{"name":"Institute of Heart and Lung Transplant and Mechanical Circulatory Support, MGM Healthcare , Chennai 600029, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2026,6,9]]},"reference":[{"issue":"7","key":"2026060904160970800_luag159-B1","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/S2352-4642(20)30392-8","article-title":"Juvenile haemochromatosis","volume":"5","author":"Griffiths","year":"2021","journal-title":"Lancet Child Adolesc Health"},{"issue":"8","key":"2026060904160970800_luag159-B2","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1007\/s40618-016-0451-7","article-title":"Endocrine dysfunction in hereditary hemochromatosis","volume":"39","author":"Pelusi","year":"2016","journal-title":"J Endocrinol Invest"},{"issue":"11","key":"2026060904160970800_luag159-B3","doi-asserted-by":"crossref","first-page":"luae196","DOI":"10.1210\/jcemcr\/luae196","article-title":"Juvenile hemochromatosis connecting cardiac arrest and hypogonadotropic hypogonadism in a young 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hemochromatosis","volume":"59","author":"Hatunic","year":"2010","journal-title":"Metabolism"},{"issue":"2","key":"2026060904160970800_luag159-B10","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/j.jhep.2022.03.033","article-title":"EASL clinical practice guidelines on haemochromatosis","volume":"77","author":"European Association for the Study of the Liver","year":"2022","journal-title":"J Hepatol"},{"issue":"1","key":"2026060904160970800_luag159-B11","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1007\/s00198-005-1920-6","article-title":"Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature","volume":"17","author":"Angelopoulos","year":"2006","journal-title":"Osteoporos Int"},{"key":"2026060904160970800_luag159-B12","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.bcmd.2018.08.003","article-title":"Adult onset hereditary hemochromatosis is associated with a novel recurrent hemojuvelin (HJV) gene mutation in North Indians","volume":"73","author":"Dhillon","year":"2018","journal-title":"Blood Cells Mol Dis"},{"issue":"8","key":"2026060904160970800_luag159-B13","doi-asserted-by":"crossref","first-page":"195","DOI":"10.3390\/ph13080195","article-title":"Juvenile hemochromatosis: a case report and review of the literature","volume":"13","author":"Takami","year":"2020","journal-title":"Pharmaceuticals (Basel)"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/4\/7\/luag159\/68492720\/luag159.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/4\/7\/luag159\/68492720\/luag159.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T08:16:15Z","timestamp":1780992975000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luag159\/8704252"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,20]]},"references-count":13,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,5,20]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luag159","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,7]]},"published":{"date-parts":[[2026,5,20]]},"article-number":"luag159"}}