Abstract
Congenital dyserythropoietic anemia (CDA) is a rare hereditary disorder marked by ineffective erythropoiesis and iron overload. Data on endocrine involvement in CDA remain limited. This study aimed to evaluate endocrine complications in patients with CDA and to assess their association with clinical and laboratory parameters. We retrospectively analyzed data from 12 patients with CDA (mean age 19.8 years; range: 6-49 years). Two patients were transfusion-dependent, and 10 were non-transfusion-dependent. We collected demographic, clinical, and laboratory data, including ferritin levels, and comprehensively assessed endocrine abnormalities. Endocrine abnormalities were identified in 9 of 12 patients (75%), for a total of 20 abnormalities. The most common findings were low bone mineral density, diabetes mellitus, subclinical hypothyroidism, and hyperprolactinemia. After excluding vitamin D deficiency, ferritin levels showed a significant positive correlation with the number of endocrine abnormalities (p = 0.015). No significant associations were observed between endocrine abnormalities and age, sex, or hemoglobin levels. Endocrine complications are common in CDA and are associated with iron overload, even in non-transfusion-dependent patients. Regular endocrine evaluation and careful monitoring of iron burden are essential for all patients with CDA.