Acquired Hypopituitarism in Diamond-Blackfan Anemia / 이화의대지

ABSTRACT

Diamond-Blackfan anemia (DBA) is a rare, inherited bone marrow failure syndrome that manifests as anemia in early infancy. Blood transfusion is a critical factor for survival. However, blood transfusions can result in iron overload. Endocrinopathies, hepatic cirrhosis, and cardiomyopathy are the most common complications of iron overload. Here, we report the case of an 18-year-old boy with DBA with hyperglycemia, short stature, and absence of puberty. The patient showed endocrine dysfunction associated with iron overload caused by repeated transfusions. He was eventually diagnosed with acquired hypopituitarism and was placed on testosterone replacement therapy. Endocrine dysfunction is common in patient with DBA, with an early manifestation of symptoms, even in teenage years. Patients receiving corticosteroid treatment or those in remission may also exhibit endocrine dysfunction, although its prevalence is the highest among chronic transfusion patients. Ongoing monitoring and evaluation of growth and pubertal development are needed for better management of these disorders.