TURNERS-SYNDROME AND HYPOGONADOTROPIC HYPOGONADISM - THALASSEMIA MAJOR AND HEMOCHROMATOSIS

We report here the first case of an association between thalassemia ma jor, hemochromatosis, hypogonadotrophic hypogonadism and Turner's synd rome, The patient is an Albanese girl born in 1980; thalassemia major was diagnosed at 1 year and she was started on a transfusion program; in 1987 iron chelation therapy was started, Six years ago, at 7 years of age, her short stature was observed and she was referred to the end ocrinology clinic for evaluation; the basal and stimulation tests done at that time failed to reveal growth hormone deficiency, hypothyroidi sm other disease, any years old, she was still prepubertal and there w as a bone age delay of 1.5 years; a gonadotropin-releasing hormone (Gn RH) stimulation test showed no response of either FSH (basal: 0.2 mU/m l; peak: 0.8 mU/ml) or LH (basal: <0.1 mU/ml; peak: 0.6 mU/ml), sugges ting hypogonadotrophic hypogonadism, Small dysmorphies called our atte ntion to the possibility of Turner's syndrome which was confirmed by t he karyotype (45 X0/46 XX). In this patient, thalassemia major and its lifelong consequences, namely the hemochromatosis-related hypogonadot rophic hypogonadism, masked the usual hormonal findings of Turner's sy ndrome.