Skordis N, Christou S, Koliou M, Pavlides N, Angastiniotis M
Department of Paediatrics, Makarios Hospital, Nicosia, Cyprus.
J Pediatr Endocrinol Metab. 1998;11 Suppl 3:935-43.
With recent therapeutic advances, thalassemic patients can now reach adulthood and attain reproductive capacity. Endocrine complications due to hemosiderosis and especially hypogonatotropic hypogonadism, which present either with sexual infantilism and primary amenorrhea or with secondary amenorrhea, are common in thalassemic women. The aim of this study was to estimate the frequency of fertility among our female thalassemic patients. Our population included 50 married women with thalassemia major (TM) and 12 with thalassemia intermedia (TI) who are regularly followed in our thalassemic centers. Of the 50 patients with TM, 7 had primary amenorrhea (PA), 9 had secondary amenorrhea (SA), and 34 had normal menstrual function (NM), as did all the patients with TI. Overall we had 62 women who were able to achieve 90 pregnancies and give birth to 87 healthy babies. Most of our patients became pregnant around the age of 25 years. Associated endocrine complications were rare except in the group of patients with PA, as expected. In all patients with PA and SA, the 17 pregnancies were induced (intercourse 10, insemination 3, IVF 4). In the patients with NM and TI, 66 pregnancies were achieved spontaneously and 7 following induction (insemination 3, IVF 4). There were four twin and one triple pregnancies, which all resulted in premature deliveries. Among the seven couples in which both partners had thalassemia major, sperm donation was used in 5 cases, ovum donation in one case, and one pregnancy was achieved spontaneously. These 90 pregnancies resulted in 69 full-term, 12 pre-term, 7 abortions and 2 stillbirths. No severe obstetric complication was observed except for two patients with preeclampsia. One patient with PA who carried the triple pregnancy developed severe cardiac failure, which was successfully treated. Transfusion requirements were increased during pregnancy. Discontinuation of desferrioxamine resulted in elevation of ferritin levels during the second and third trimesters of pregnancy and after delivery. Nine patients who were examined with cardiac echo had a transient increase of ESD and EDD during pregnancy, with return to normal after delivery. Labor was performed by Caesarian section in 26 births (26%) out of the 81 successful pregnancies. These collected data represent the largest number of pregnancies in thalassemic females reported so far and are clearly encouraging for the ultimate improvement of the quality of life in thalassemic patients.
随着近期治疗方法的进步，地中海贫血患者如今能够活到成年并具备生殖能力。由铁过载尤其是低促性腺激素性性腺功能减退引起的内分泌并发症，表现为性幼稚和原发性闭经或继发性闭经，在地中海贫血女性中很常见。本研究的目的是评估我们的女性地中海贫血患者的生育频率。我们的研究对象包括50名重度地中海贫血（TM）已婚女性和12名中间型地中海贫血（TI）已婚女性，她们在我们的地中海贫血中心定期接受随访。在50名TM患者中，7名有原发性闭经（PA），9名有继发性闭经（SA），34名月经功能正常（NM），所有TI患者月经功能均正常。总体而言，我们有62名女性成功怀孕90次并生下87名健康婴儿。我们的大多数患者在25岁左右怀孕。除了PA组患者外，相关内分泌并发症很少见，这在意料之中。在所有PA和SA患者中，17次妊娠是诱导妊娠（性交10次，人工授精3次，体外受精4次）。在NM和TI患者中，66次妊娠是自然受孕，7次是诱导受孕（人工授精3次，体外受精4次）。有4例双胎妊娠和1例三胎妊娠，均导致早产。在夫妻双方均为重度地中海贫血的7对夫妇中，5例使用了供精，1例使用了供卵，1例自然受孕。这90次妊娠中，69次足月分娩，12次早产，7次流产，2次死产。除了2例先兆子痫患者外，未观察到严重的产科并发症。1例怀有三胎妊娠的PA患者发生了严重心力衰竭，但成功治愈。孕期输血需求增加。在妊娠中期和晚期以及分娩后，停用去铁胺导致铁蛋白水平升高。9名接受心脏超声检查的患者在孕期ESD和EDD短暂升高，产后恢复正常。在81次成功妊娠中，26次分娩（26%）通过剖宫产进行。这些收集到的数据代表了迄今为止报道的地中海贫血女性最多的妊娠次数，对于最终改善地中海贫血患者的生活质量显然具有鼓舞作用。
