De Sanctis V, Tangerini A, Testa M R, Lauriola A L, Gamberini M R, Cavallini A R, Rigolin F
Department of Paediatrics and Adolescent Medicine, Arcispedale S. Anna, Ferrara, Italy.
J Pediatr Endocrinol Metab. 1998;11 Suppl 3:965-71.
We present data of a detailed study of endocrine function in 50 patients (21 males, 29 females) with thalassaemia intermedia, 15-46 years old (mean age 28.7 yr), with raised serum ferritin levels (mean 1540 micrograms/l). Mean haemoglobin concentration was 8.1 g/dl. Half of them had had more than 50 transfusions in their life and had received irregular intramuscular or subcutaneous chelation therapy. Delayed puberty was one of the most frequent (36%) clinical endocrine abnormalities found in our patients. Primary amenorrhea was observed in two patients and secondary amenorrhea in four patients. Two males, aged 19 and 36 years, had hypogonadism. A poor response to GnRH, found in three females and in both males tested, suggested that pituitary dysfunction was wholly or partially responsible for hypogonadism. Gonadal function was normal in all patients studied. Glucose intolerance and primary hypothyroidism were less frequent (24 and 5.7%, respectively) and milder than in thalassaemia major patients. Two patients had low T3 and T4 and normal basal and stimulated response of TSH to TRH. This condition has been found in euthyroid sick syndrome and it is likely that it represents an adaptive response by the body to minimize catabolism when undergoing major stress. As a consequence, we believe that periodic endocrine evaluation should be carried out in subjects with beta-thalassaemia intermedia, particularly in those over 14 years old, in order to detect and to treat endocrine dysfunction.
我们展示了对50例中间型地中海贫血患者（21例男性，29例女性）内分泌功能的详细研究数据，这些患者年龄在15至46岁之间（平均年龄28.7岁），血清铁蛋白水平升高（平均1540微克/升）。平均血红蛋白浓度为8.1克/分升。其中一半患者一生中接受过超过50次输血，并接受过不规律的肌肉注射或皮下螯合治疗。青春期延迟是我们患者中最常见的临床内分泌异常之一（36%）。两名患者出现原发性闭经，四名患者出现继发性闭经。两名年龄分别为19岁和36岁的男性患有性腺功能减退。在三名女性和两名接受检测的男性中发现对促性腺激素释放激素（GnRH）反应不佳，提示垂体功能障碍完全或部分导致了性腺功能减退。所有研究患者的性腺功能均正常。葡萄糖耐量异常和原发性甲状腺功能减退较重型地中海贫血患者少见（分别为24%和5.7%）且程度较轻。两名患者T3和T4水平低，促甲状腺激素（TSH）对促甲状腺激素释放激素（TRH）的基础和刺激反应正常。这种情况在正常甲状腺病态综合征中已被发现，很可能是身体在遭受重大应激时为尽量减少分解代谢而做出的适应性反应。因此，我们认为对于中间型β地中海贫血患者，尤其是14岁以上的患者，应定期进行内分泌评估，以便检测和治疗内分泌功能障碍。
