Mensi Laura, Borroni Raffaella, Reschini Marco, Cassinerio Elena, Vegetti Walter, Baldini Marina, Cappellini Maria Domenica, Somigliana Edgardo
Dept. of Clinical Science and Community Health, University of Milan, Milan, Italy.
Infertility Unit, Fondazione Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Eur J Obstet Gynecol Reprod Biol X. 2019 May 13;3:100048. doi: 10.1016/j.eurox.2019.100048. eCollection 2019 Jul.
Women with thalassaemia major typically experience hypogonadotropic hypogonadism because of the toxic effects of iron overload on the anterior pituitary. Moreover, in affected women, serum anti-Mullerian hormone (AMH) and antral follicle count (AFC) are also shown to be reduced, suggesting that the peripheral excess of iron could also harm the ovarian reserve. To date, the detrimental effects of the disease on oocyte quality have not been investigated.
Women with thalassaemia major who underwent fertilization (IVF) cycles were retrospectively identified over a 9 years period. They were matched (with a 1:5 ratio) by study period and age to a control group of infertile women undergoing IVF. Embriological variables were compared between the two groups. The primary outcome was the rate of top quality embryos.
Twenty-one women with thalassaemia major (exposed group) and 105 controls (unexposed group) were ultimately included. Serum AMH was 0.6 [0.2-1.8] and 1.5 [0.7-3.5] ng/ml, respectively (p = 0.05). AFC was 4 (1-7.5) and 11 (5.5-16), respectively (p < 0.001). The total dose of gonadotropins used was higher in exposed women but the number of retrieved oocytes and oocytes used did not differ. The fertilization rate was higher in exposed compared to unexposed women, being 100% (76-100%) and 75% (50-100%). respectively (p = 0.03). The cleavage rate was also higher, being 75% (39-100%) and 50% (29-64%), respectively (p = 0.04). In contrast, the rate of top quality embryos did not differ, being 20% (0-76%) and 25% (5-50%), respectively (p = 0.98).
Despite lower ovarian reserve, oocyte quality is not significantly affected in women with thalassaemia major.
重型地中海贫血女性通常会因铁过载对垂体前叶的毒性作用而出现低促性腺激素性性腺功能减退。此外，在受影响的女性中，血清抗苗勒管激素（AMH）和窦卵泡计数（AFC）也显示降低，这表明外周铁过量也可能损害卵巢储备。迄今为止，该疾病对卵母细胞质量的有害影响尚未得到研究。
回顾性确定9年间接受体外受精（IVF）周期的重型地中海贫血女性。根据研究时间和年龄，按照1:5的比例将她们与接受IVF的不孕女性对照组进行匹配。比较两组的胚胎学变量。主要结局是优质胚胎率。
最终纳入21名重型地中海贫血女性（暴露组）和105名对照组（未暴露组）。血清AMH分别为0.6[0.2 - 1.8]和1.5[0.7 - 3.5]ng/ml（p = 0.05）。AFC分别为4（1 - 7.5）和11（5.5 - 16）（p < 0.001）。暴露组女性使用的促性腺激素总剂量较高，但取卵数和可用卵母细胞数无差异。与未暴露组女性相比，暴露组的受精率更高，分别为100%（76 - 100%）和75%（50 - 100%）（p = 0.03）。卵裂率也更高，分别为75%（39 - 100%）和50%（29 - 64%）（p = 0.04）。相比之下，优质胚胎率无差异，分别为20%（0 - 76%）和25%（5 - 50%）（p = 0.98）。
尽管卵巢储备较低，但重型地中海贫血女性的卵母细胞质量未受到显著影响。
