Delayed diagnosis of juvenile hemochromatosis due to missed ferritin testing in a case of hypogonadotropic hypogonadism
Purnima Agarwal, Ambrish Mithal, Komarakshi Balakrishnan, Murali Krishna Tanguturu, Suresh Rao Kemundel Genny · 2026
Read Delayed diagnosis of juvenile hemochromatosis due to missed ferritin testing in a case of hypogonadotropic hypogonadism by Purnima Agarwal, Ambrish Mithal, Komarakshi Balakrishnan, Murali Krishna Tanguturu, Suresh Rao Kemundel Genny (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13247529.txt.
Description
Agarwal, Mithal, and Balakrishnan recount a diagnosis missed for nearly a decade, in this 2026 JCEM Case Reports article. Their patient, a twenty-six-year-old woman, first presented at eighteen with sparse periods and was labeled with polycystic ovary syndrome. Infertility workups later showed her pituitary was not driving her ovaries, and over the years she developed insulin-dependent diabetes and then sudden, life-threatening heart failure requiring an urgent transplant.
Genetic testing finally named juvenile hemochromatosis, a rare inherited iron-loading disease, caused in her by a homozygous change in the hemojuvelin gene. The authors' lesson is blunt: a cheap, routine ferritin blood test, never done, would have flagged iron overload years earlier. They urge screening young patients with this symptom cluster before organs fail irreversibly.
Catalog record
| CREATOR | Purnima Agarwal, Ambrish Mithal, Komarakshi Balakrishnan, Murali Krishna Tanguturu, Suresh Rao Kemundel Genny |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 21 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |