Brändle M, Galeazzi R L, Morant R, Oesterle M
Medizinische Klinik A, Kantonsspital St. Gallen.
Schweiz Med Wochenschr. 1996 Nov 2;126(44):1867-74.
Regular blood transfusions in patients with beta-thalassaemia major lead to secondary hemochromatosis in the majority of cases. As a consequence of chronic iron overload, many endocrinopathies may occur. The most frequent endocrine dysfunction is hypogonadotropic hypogonadism, which is mainly responsible for osteopenia in as much as 80% of thalassemic patients. The frequencies of other endocrine disorders (hypothyroidism, diabetes mellitus and hypoparathyroidism) are lower. We investigated 5 female patients aged 22-25 years for endocrine dysfunction and bone density. All presented with hypogonadotropic hypogonadism and amenorrhea (four primary and one secondary). 4 patients showed absent or delayed pubertal development and short stature (below 10th percentile). In all five, hypogonadism is the most relevant cause of osteopenia as demonstrated by osteodensitometry. Endocrine disorders, especially absent pubertal development, should be detected in good time and treated with hormonal replacement. Established osteopenia is treated hormonally and with vitamin D3 and calcium.
重型β地中海贫血患者定期输血在大多数情况下会导致继发性血色素沉着症。由于慢性铁过载，可能会出现许多内分泌疾病。最常见的内分泌功能障碍是低促性腺激素性性腺功能减退，这在多达80%的地中海贫血患者中是导致骨质减少的主要原因。其他内分泌疾病（甲状腺功能减退、糖尿病和甲状旁腺功能减退）的发生率较低。我们调查了5名年龄在22 - 25岁的女性患者的内分泌功能障碍和骨密度情况。所有患者均表现为低促性腺激素性性腺功能减退和闭经（4例原发性和1例继发性）。4例患者出现青春期发育缺失或延迟以及身材矮小（低于第10百分位数）。通过骨密度测定证实，在所有5例患者中，性腺功能减退是骨质减少的最主要原因。内分泌疾病，尤其是青春期发育缺失，应及时发现并进行激素替代治疗。已确诊的骨质减少采用激素、维生素D3和钙剂进行治疗。
