Endocrine investigation and follow up in thalassaemia. Time for specific guidelines

Abstract

Iron overload due to multiple transfusions affects the endocrine glands especially the anterior pituitary, the pancreas, the thyroid and the parathyroids. This leads to a variety of endocrinopathies and growth failure. Delayed puberty, hypogonadism, growth hormone deficiency in adults, hypothyroidism, hypoparathyroidism and diabetes are common and around 20% of patients have more than one endocrinopathy. In this paper suggestions for guidelines concerning diagnosis, investigation and treatment are proposed for the following clinical entities encountered in thalassaemia patients: i) Growth failure: after the age of 9-10 rears there is a slowing of growth velocity, the pathogenesis of which is multifactorial and anaemia, folate deficiency and hypersplenism are implicated. Desferrioxamine toxicity has been reported as cause of the abnormal upper to lower segment ratio. Growth hormone is given in selected cases. ii) Delayed puberty and hypogonadism: are the most obvious clinical consequences of iron overload in both sexes. Primary and secondary amenorrhoea are very common in women. Sex steroid replacement therapy is the optimal therapeutic regime which has a great impact on the quality of life of adult thalassaemia patients. iii) Fertility: Women with TM, who are regularly transfused and are well chelated can now become pregnant either spontaneously or by inducing ovulation. Pregnancy must carefully monitored. iv) Growth hormone deficiency in adult thalassaemics: This occurs in a high prevalence and since GH in adults is involved in numerous biological functions, especially of the heart, proper assessment of this hormone is needed and consideration of the need for replacement. v) Hypothyroidism and hypoparathyroidism: these deficiencies are also discussed. 由于多次输血引起的铁过载影响内分泌腺，尤其是垂体前叶、胰腺、甲状腺以及甲状旁腺 这导致各种内分泌病和成长失败。 青春期延迟、性腺机能减退、成人生长激素缺乏、甲状腺机能减退、甲状旁腺机能减退、糖尿病为常见内分泌病，并且大约20%的患者患有一种以上内分泌病。 本文中提出关于诊断、调查和治疗的方针建议，用于处理地中海贫血患者遇到的下列临床实体： 1）生长失败 9-10岁过后，会减缓生长速率，其发病机制是多因素的，贫血、缺乏叶酸和脾功能亢进与之有关。 报道称去铁草酰胺毒性为高段率到低段率异常的原因。 在选定的案例中说明了生长激素。2）青春期延迟和性腺机能减退： 是男性和女性铁过载的最明显的临床结果。 原发闭经和继发闭经在女性中十分常见 性激素替代疗法是最佳的治疗方案，其对成年地中海贫血病患者的生活质量中有很大的影响。3）繁殖： 现在，定期输血和良好螯合的女性重型地中海贫血患者可以自发怀孕或通过诱导排卵怀孕。 必须对妊娠进行小心监视。4）成人地中海贫血患者的生长激素缺乏症： 这是一种高患病率的疾病，一旦成人的生长激素涉及许多生物学功能，尤其是心脏的生物学功能，需要进行关于此激素的适当评估，并考虑进行更换。5）甲状腺机能减退和甲状旁腺机能减退： 同样也讨论了这些机能缺陷。

Keywords

• thalassemia, guidelines.