Iron Overload-Associated Premature Ovarian Insufficiency: A Case Report.

INTRODUCTION: Primary ovarian insufficiency (POI) is a clinical condition characterized by reduced or loss of ovarian follicle function before age 40. It presents with a broad clinical spectrum and variable natural progression. Chronic iron overload is a known cause of endocrine dysfunction and is suspected to contribute to POI through mechanisms such as oxidative stress and ferroptosis. This report presents a rare case of an 18-year-old female with iron overload suspected due to a history of chronic transfusion during her childhood period, which leads her to POI.

CASE PRESENTATION: An 18-year-old 46 XX female presented with primary amenorrhea and absence of secondary sexual characteristics. She had a history of regular blood and platelet transfusions for 7 years during childhood, with no subsequent transfusions. Anthropometry showed normal weight and height. Physical examination revealed Tanner stage 1 breast and pubic hair development. Initial laboratory evaluation revealed hypergonadotropic hypogonadism (FSH 64.15 mIU/mL; Estradiol 22.37 pg/mL; AMH <0.03 ng/mL). Significant iron overload was noted (Ferritin 3435.7 ng/mL; Transferrin saturation 77.52%). Pelvic imaging demonstrated hypoplastic uterus and ovaries. The patient was diagnosed with POI associated with iron overload and Immune Thrombocytopenic Purpura, noting her thrombocytopenia with a platelet count of 95,000/µL. She started estradiol valerate 1 mg daily to induce secondary sexual characteristics.

CONCLUSION: Long-term exposure to excess iron may contribute to follicular atresia and ovarian failure. This case underscores the importance of monitoring pubertal development in children with a history of chronic transfusions. The therapeutic strategy for POI focuses on initiating secondary sexual characteristics to foster psychosocial well-being and optimize bone health.