{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T11:36:37Z","timestamp":1758281797470,"version":"3.44.0"},"reference-count":10,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T00:00:00Z","timestamp":1757635200000},"content-version":"vor","delay-in-days":24,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Hereditary hemochromatosis type 2A (juvenile hemochromatosis) is a rare autosomal recessive disorder caused by mutations in the HJV gene. It results in severe systemic iron overload and multiorgan dysfunction, including endocrine and skeletal manifestations. A 32-year-old woman presented with secondary amenorrhea, progressive skin hyperpigmentation, arthritis, and poorly controlled diabetes. Evaluation revealed hypogonadotropic hypogonadism, elevated serum ferritin (&amp;gt;2000\u2005ng\/mL), transferrin saturation of 93.8%, and osteoporosis (lumbar spine T-score \u22123.3; femoral neck \u22123.7). Magnetic resonance imaging showed iron deposition in the pituitary gland, liver, pancreas, and heart. Genetic testing confirmed a homozygous HJV mutation (c.1063G &amp;gt; T, p.Asp355Tyr). Management included weekly therapeutic phlebotomy (target ferritin \u223c50\u2005ng\/mL), a basal-bolus insulin regimen, estrogen-progestin hormone replacement, and calcium\/vitamin D supplementation. After 3 months, skin pigmentation lightened, glycated hemoglobin dropped from 8.5% to 7.8%, ferritin fell to 1294\u2005ng\/mL, and menstrual cycles resumed. This case emphasizes the importance of suspecting juvenile hemochromatosis in young patients with unexplained hypogonadism, diabetes, or osteoporosis. Early diagnosis and multidisciplinary treatment can prevent irreversible organ damage and improve long-term outcomes.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf148","type":"journal-article","created":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T20:10:46Z","timestamp":1758226246000},"source":"Crossref","is-referenced-by-count":0,"title":["Hereditary Hemochromatosis Type 2A Presenting With Hypogonadism, Diabetes, and Osteoporosis in a Young Woman"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-8106-4739","authenticated-orcid":false,"given":"Ajeesh","family":"Thulaseedharan","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Indian Institute of Diabetes , Thiruvananthapuram 695011 ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Puthiyaveetil Khadar","family":"Jabbar","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Indian Institute of Diabetes , Thiruvananthapuram 695011 ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Mosses","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Indian Institute of Diabetes , Thiruvananthapuram 695011 ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,9,12]]},"reference":[{"issue":"2","key":"2025091816104153700_luaf148-B1","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1053\/j.gastro.2010.06.013","article-title":"Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment","volume":"139","author":"Pietrangelo","year":"2010","journal-title":"Gastroenterology"},{"issue":"1","key":"2025091816104153700_luaf148-B2","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/ng1274","article-title":"Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis","volume":"36","author":"Papanikolaou","year":"2004","journal-title":"Nat Genet"},{"issue":"4","key":"2025091816104153700_luaf148-B3","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1046\/j.1365-2141.2002.03509.x","article-title":"Natural history of juvenile hemochromatosis","volume":"117","author":"De Gobbi","year":"2002","journal-title":"Br J Haematol"},{"issue":"1","key":"2025091816104153700_luaf148-B4","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1186\/s13018-022-03357-1","article-title":"Association between serum ferritin and bone mineral density in US adults","volume":"17","author":"Peng","year":"2022","journal-title":"J Orthop Surg Res"},{"issue":"8","key":"2025091816104153700_luaf148-B5","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.14309\/ajg.0000000000000315","article-title":"ACG clinical guideline: hereditary hemochromatosis","volume":"114","author":"Kowdley","year":"2019","journal-title":"Am J 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