Chhavi GOYAL, Omkar Kalidasrao CHOUDHARI, Disha SATYA, Priyanka SONI, Naveen GUPTA, Rajeev KASLIWAL, Rajat BHARGVA, Paresh SUKHANI, Hemant MALHOTRA
Introduction: Hereditary hemochromatosis is an inherited condition where an excess of iron is absorbed from the diet, causing its accumulation in vital organs and subsequent organ damage. Very few cases of hereditary hemochromatosis have been reported, and reports of genetic studies are rare. Genetic mutations and environmental factors regulate iron absorption, which modulates the manifestation of disease.
Case presentation- A 30-year-old male presented to the Endocrinology outpatient clinic with a complaint of decreased facial and axillary hair and reduced sexual desire since puberty. The patient was diagnosed with hypogonadotropic Hypogonadism, and magnetic resonance imaging suggested Pituitary hemosiderosis. Mutation analysis revealed the presence of an HFE2 gene mutation, indicating Hereditary Haemochromatosis type 2A.
Conclusion- Early diagnosis and timely phlebotomy are the key to preventing end-organ damage.
Keywords- Hereditary hemochromatosis; Hypogonadism; HFE gene; hepcidin; iron
https://doi.org/10.59854/dhrrh.2025.3.3.151
