Turner's syndrome and hypogonadotrophic hypogonadism: thalassemia major and hemochromatosis

Abstract

We report here the first case of an association between thalassemia major, hemochromatosis, hypogonadotrophic hypogonadism and Turner's syndrome. 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 endocrinology clinic for evaluation; the basal and stimulation tests done at that time failed to reveal growth hormone deficiency, hypothyroidism or any other disease. Nevertheless, at 12 years old, she was still prepubertal and there was a bone age delay of 1.5 years; a gonadotropin-releasing hormone (GnRH) stimulation test showed no response of either FSH (basal: 0.2 mU/ml; peak: 0.8 mU/ml) or LH (basal: < 0.1 mU/ml; peak: 0.6 mU/ml), suggesting hypogonadotrophic hypogonadism. Small dysmorphies called our attention to the possibility of Turner's syndrome which was confirmed by the karyotype (45 XO/46 XX). In this patient, thalassemia major and its lifelong consequences, namely the hemochromatosis-related hypogonadotrophic hypogonadism, masked the usual hormonal findings of Turner's syndrome.