MRI changes of the pituitary gland and brain in Thalassemia major: A comprehensive review of clinical implications

Abstract

Introduction: Thalassemia major is a genetic disorder characterized by chronic anemia requiring frequent blood transfusions, leading to iron overload in various organs, including the pituitary gland and brain. MRI is a pivotal tool in assessing the extent of iron deposition and its clinical consequences in these patients. Objective: To summarize the MRI findings related to pituitary and brain changes in thalassemia major and to elucidate their clinical implications based on existing literature. Methods: A comprehensive review of the literature was conducted, focusing on studies that employed MRI to investigate pituitary and brain changes in patients with thalassemia major. Data extracted from these studies included the number of patients, MRI findings, and associated clinical outcomes. Results: The review included studies published between 1998 and 2022. Key findings are as follows: Pituitary Gland Changes: Multiple studies reported reduced pituitary gland volume and signal intensity, correlating with hypogonadotropic hypogonadism (HH) and delayed puberty. Specific MRI metrics such as pituitary-to-fat signal intensity ratios (SIRs) and pituitary-R2 values were elevated in patients with HH, indicating significant iron overload. Brain Changes: Increased brain T2* values indicative of iron overload was observed. Clinical Associations: The MRI findings were consistently associated with various endocrinal abnormalities, including hypogonadism, short stature, delayed puberty, and growth hormone deficiency. Severe pituitary iron deposition and volume loss were predictive of hypogonadism. Specific studies highlighted the independent progression of iron overload in different organs, emphasizing the importance of organ-specific MRI evaluation. Additional Findings: Notably, iron chelation therapy showed potential benefits in reversing some of the endocrinal and cardiac complications associated with iron overload. Discussion and Conclusions: MRI is a valuable diagnostic tool for detecting iron overload in the pituitary gland and brain in thalassemia major patients. The findings from various studies highlight significant clinical implications, including hypogonadotropic hypogonadism, delayed puberty, and growth hormone deficiency. Regular MRI assessments, along with appropriate chelation therapy, are crucial in managing and mitigating these complications. Further research is needed to establish standardized MRI protocols and improve early diagnosis and treatment outcomes in thalassemia major.