Endocrine Abstracts

JOINT677

Background: Thalassemia is a chronic transfusion-dependent disorder often associated with iron overload. Excess iron deposition in the pituitary gland leads to endocrine dysfunctions such as growth hormone (GH) deficiency and hypogonadotropic hypogonadism, significantly impacting growth and pubertal development. Magnetic resonance imaging (MRI) has emerged as a critical tool for evaluating pituitary iron overload and its correlation with endocrine dysfunctions.

Objective: To assess the role of pituitary MRI in detecting iron overload and its association with endocrine abnormalities and growth defects in patients with thalassemia major.

Methods: A systematic review of 20 studies involving over 1,500 thalassemia major patients was conducted. MRI findings of pituitary iron overload, reduced T2* relaxation times, and structural abnormalities were correlated with endocrine dysfunctions such as GH and gonadotropin deficiencies. Growth and pubertal outcomes were also analyzed.

Results: 1. MRI Findings:.

• Pituitary iron overload was a consistent finding, with reduced T2* relaxation times (<20 ms) correlating with increased serum ferritin levels and liver iron concentration (LIC).

• Structural abnormalities included reduced pituitary volume, hypoplastic glands, and abnormal shapes.

2. Endocrine Dysfunction:.

• Growth hormone deficiency (GH) was observed in studies such as Noetzli et al. (2012), with delayed height velocity and impaired catch-up growth.

• Hypogonadotropic hypogonadism was common, presenting as delayed or arrested puberty, particularly in studies by Wood et al. (2015) and Jain et al. (2021).

• Additional hormonal abnormalities included secondary hypothyroidism, adrenal insufficiency, and gonadotropin suppression.

3. Growth Implications:.

• Short stature, delayed puberty, and stunted skeletal growth were prominent in patients with significant pituitary iron deposition.

• Long-term MRI monitoring and chelation therapy adjustments, as shown by Agha et al. (2023), improved growth trajectories in some patients.

4. Clinical Utility of MRI:.

• Studies such as Kildemoes et al. (2023) emphasized the accuracy of T2* MRI in quantifying pituitary iron and guiding chelation therapy.

• MRI findings predicted the severity of endocrine dysfunctions and provided insights into individualized management plans.

Conclusion: Pituitary MRI plays a pivotal role in detecting iron overload and predicting endocrine dysfunctions in thalassemia major. By identifying structural and functional abnormalities, MRI guides timely interventions to mitigate growth and pubertal defects. Incorporating routine MRI assessments into patient management protocols can significantly improve long-term outcomes.

Keywords: Thalassemia major, pituitary MRI, iron overload, growth hormone deficiency, hypogonadotropic hypogonadism, T2* relaxation time, endocrine dysfunction.