Sexual Maturation in β-Thalassemia Major Patients in Assiut University Hospital
Sexual Maturation in β-Thalassemia Major Patients in Assiut University Hospital
cross sectional study to asses sexual maturation in β-Thalassemia Major patients receiving
 Iron Chelation Therapy in assuit University Hospital and maintenance of 2ry sexual characters
 and reproduction
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 iron deposits in the
 gonads, pituitary gland or both.

 Hypogonadotropic hypogonadism resulting from iron deposition in the pituitary gonadotrope is
 more commonly found than gonadal iron deposition in ovaries or testes occurs.

 Iron deposition in the anterior pituitary gland can be demonstrated beginning in the first
 decade of life, but clinical manifestations are usually not evident until the onset of
 puberty. At the earlier stage, only a diminished gonadotropin reserve with intact
 gonadotropin pulse was observed .

 The direct effect of iron, in particular that of NTBI(non-transferrin-bound iron) on the
 ovaries and testes is currently unknown. The ovarian reserve is preserved in the majority of
 female thalassemia patients, even in women with amenorrhea. In males, histological
 examination of testicular tissues from autopsies demonstrated testicular interstitial
 fibrosis with small, heavily pigmented, undifferentiated seminiferous tubules and an absence
 of Leydig cells .

 There are three main clinical presentations of the HPG(hypothalamic pituitary gonadal
 axis)axis derangement in thalassemia major, including delayed puberty, arrested puberty and
 hypogonadism. Delayed puberty is defined as the absence of any pubertal signs by 14 years in
 boys and 13 years in girls . Arrested puberty is defined as the absence of further pubertal
 progression for more than 1 year after puberty has started.

 Chelation therapy with desferoxamine before the age of puberty has helped patients to attain
 normal sexual maturation in some studies but not in others. In a study of 40 patients with
 transfusion-dependent thalassemia major, 90% of 19 patients who began treatment with
 desferoxamine before the age of 10 had normal sexual development compared with only 38% of
 those treated after the age of 10. In contrast, another study reported no difference in the
 frequency of pubertal maturation when iron chelation therapy was started at the age of 10 or
 earlier. Serum ferritin levels were still higher than normal in previous studies.

 After a period of 5-7 years, 50% of hypogonadal males achieved normal testosterone levels and
 32% of amenorrheic women became pregnant, either spontaneously or using in vitro
 fertilization . With modern medications, iron-induced hypogonadism may be reversible with
 intensive iron chelation regimens.
Inclusion Criteria:

 -  β-thalassemic Patients aged 10 years and older

 -  β-thalassemic patients receiving regular blood transfusions

 -  All patients are on chelation therapy

 Exclusion Criteria:

 -  β-thalassemic patients with major system complications as cardiac ,renal or hepatic.

 -  Patients not receiving chelation therapy

 -  Patients with other hemolytic anemia