Pituitary hemochromatosis in the clinical setting of secondary amenorrhea in a patient with Diamond-Blackfan anemia

Secondary amenorrhea is the absence of menses for more than 3 months in women who previously had regular menstrual cycles or 6 months for those with irregular cycles. Workup of secondary amenorrhea includes laboratory analysis to assess pituitary function, specifically luteinizing hormone (LH) and follicle stimulating hormone (FSH). If low, structural evaluation of the pituitary gland with MRI is recommended. We report a case of a 31-year-old female with history of transfusion-dependent Diamond-Blackfan anemia and type 2 diabetes that reported amenorrhea for 1 year following intrauterine device (IUD) removal. Due to low LH and FSH, the patient underwent an MRI of the pituitary gland. Imaging demonstrated complete absence of MRI signal within the pituitary parenchyma, which confirmed pituitary dysfunction from secondary hemochromatosis, presumably due to iron overload from multiple transfusions. As a result of her imaging and laboratory assessment, she was placed on an iron chelator and oral contraception.