ABSTRACT â-thalassemia (â-thal) is characterized by disturbances of the reproductive system. The aim of the present study was: 1) to assess the hypothalamic pituitary -gonadal axis in patients with â-thal in relation to their phenotype and 2) to determine prognostic features of current gonadal status. We studied 135 patients (67 males and 68 females) with â-thal through history, physical examination, spermiograms and GnRH test. These patients were divided into â-thal major (51 males and 62 females) and â-thal intermedia phenotypes (16 males and 6 females). Male patients with â-thal major were subdivided into three groups a) eugonadal (35%, Tanners stage V, normal testicular volume, normal spermiograms, normal basal and stimulated hormone values), b) patients with hypogonadotrophic hypogonadism (HH) of late onset (24%, Tanners stage II-V, low-normal testicular volume, abnormal spermiograms, normal basal gonadotrophin values and abnormal response to GnRH test) and c) patients with HH of early onset (41%, Tanners stage I, small testicular volume, abnormal spermiograms, abnormal basal and stimulated hormone values). Female patients with â-thal major were subdivided into: a) eugonadal (32%, Tanners stage V, regular menstruation, normal basal and stimulated hormone values), b) patients with hypogonadotrophic hypogonadism (HH) of late onset (34%, Tanners stage II-V, secondary amenorrhea, subnormal basal and stimulated gonadotrophin values) and c) patients with HH of early onset (34%, Tanners stage I, primary amenorrhea, subnormal basal and stimulated hormone values). Patients with â-thal intermedia were subdivided into eugonadal (75% of males -33% of females) and hypogonadal (25% of males -67% of females). Current gonadal status could not be predicted by means of transfusion or chelation parameters. In conclusion, â-thal patients could be eugonadal or develop early or late onset HH. â-thal intermedia patients have a more favorable profile than â-thal major individuals. Current gonadal status of â-thal patients cannot be predicted by means of history, clinical or laboratory parameters
