Hypogonadotropic Hypogonadism in a Female Patient with Thalassemia Major

Abstract

Thalassemia refers to a group of inherited diseases characterized by decreased or absent synthesis of normal globin chains. The direct consequence is an imbalance of the alpha and beta globin chain synthesis that results in anemia from ineffective erythropoiesis and hemolysis. The term thalassemia major refers to the severe form that is often associated with life-long transfusion dependent anemia. Hypogonadism is the most frequently reported endocrine complication, affecting 70-80% of thalassemia major patients. Hypogonadism is likely to be caused by hypertransfusion therapy resulting in iron deposits in the gonads, pituitary gland or both. However, hypogonadotropic hypogonadism resulting from iron deposition in the pituitary gonadotrope is more commonly found. Gonadal iron deposition in ovaries or testes occurs less frequently, as the majority of amenorrheic women can still ovulate after hormonal treatment. Despite recent advances in iron chelation therapy, excess iron overload in pituitary gonadotropic cells remains one of the major problems in thalassemic patients. Hypogonadism, mostly hypogonadotropic hypogonadism, is usually detected during puberty. Early diagnosis and treatment are crucial for normal pubertal development and to reduce the complications of hypogonadism. The risks and benefits of hormonal replacement therapy, especially regarding the thromboembolic event, remain a challenge for providers caring for thalassemic patients. We hereby present a case of 15-year-old unmarried girl with thalassemia major presenting with primary amenorrhea and poorly developed secondary sexual characteristics. A thorough history, clinical examination, laboratory and radiological investigations were conducted. These tests confirmed the diagnosis of hypogonadotropic hypogonadism. Patient was started on hormone replacement therapy. She is on regular follow-up and compliant with her treatment.