Iron overload : A cause of primary amenorrhea

Abstract

Primary amenorrhea i.e. absence of menses, resulting from hypogonadotropic hypogonadism occurs when the hypothalamus fails to secrete adequate amounts of gonadotropin releasing hormone (GnRH) or when a pituitary disorder is associated with inadequate production or release of pituitary gonadotropins [1]. Thalassemia major, a severe hemolytic anaemia due to a genetic defect in the synthesis of haemoglobin chain, can produce hypopituitarism. This hypopituitarism leads to hypogonadotropic hypogonadism, an endocrinopathy occurring secondary to iron overload [2]. The iron overload is a consequence of frequent blood transfusion, which is the most important treatment modality for thalassemia major. Other possible causes of hypogonadism in beta thalassemia major include liver disorders, chronic hypoxia, diabetes mellitus and zinc deficiency [3]. The anterior pituitary is especially sensitive to increased iron concentration which disrupts the hormonal secretion leading to hypogonadism, short stature and acquired hypothyroidism [4]. We present a case of primary amenorrhea in a thalassemie patient to highlight that hypertransfusion and regular chelation therapy may have allowed improved survival in patients with thalassemia major but despite medical advances, growth failure and hypogonadism remains a significant clinical problem in these patients in adolescence.