beta-thalassemia and gonadal axis: a cross-sectional, clinical study in a Greek population.

‚-thalassemia (‚-thal) is characterized by disturbances of the reproductive system. The aim of the present study was: 1) to assess the hypothalamic n pituitary - gonadal axis in patients with ‚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 ‚-thal through history, physical examination, spermiograms and GnRH test. These patients were divided into ‚-thal major (51 males and 62 females) and ‚-thal intermedia phenotypes (16 males and 6 females). Male patients with ‚-thal major were subdivided into three groups a) eugonadal (35%, Tanneris stage V, normal testicular volume, normal spermiograms, normal basal and stimulated hormone values), b) patients with hypogonadotrophic hypogonadism (HH) of late onset (24%, Tanneris 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%, Tanneris stage I, small testicular volume, abnormal spermiograms, abnormal basal and stimulated hormone values). Female patients with ‚-thal major were subdivided into: a) eugonadal (32%, Tanneris stage V, regular menstruation, normal basal and stimulated hormone values), b) patients with hypogonadotrophic hypogonadism (HH) of late onset (34%, Tanneris stage II-V, secondary amenorrhea, subnormal basal and stimulated gonadotrophin values) and c) patients with HH of early onset (34%, Tanneris stage I, primary amenorrhea, subnormal basal and stimulated hormone values). Patients with ‚-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, ‚-thal patients could be eugonadal or develop early or late onset HH. ‚-thal intermedia patients have a more favorable profile than ‚-thal major individuals. Current gonadal status of ‚-thal patients cannot be predicted by means of history, clinical or laboratory parameters.