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低促性腺激素性性腺功能减退和性腺储备减少是导致铁过载的地中海贫血患者出现不育的功能性配子发生障碍的原因。

Hypogonadotrophic hypogonadism and diminished gonadal reserve accounts for dysfunctional gametogenesis in thalassaemia patients with iron overload presenting with infertility.

作者信息

Bajoria Rekha, Chatterjee Ratna

机构信息

Institute For Women's Health, University College London, London, UK.

出版信息

Hemoglobin. 2011;35(5-6):636-42. doi: 10.3109/03630269.2011.623809. Epub 2011 Oct 28.

DOI:10.3109/03630269.2011.623809
PMID:22035015
Abstract

Improved care of β-thalassemia major (β-TM) patients has brought with it new challenges for the patient to have a family. We report our 15-year experience with 30 couples with 28 pregnancies following artificial reproductive techniques (ART). Sixty percent of females had hypogonadotrophic hypogonadism (HH) with diminished ovarian reserve and responded favorably to gonadotrophins with 80% success rate within three cycles. Pulsatile gonadotrophin-releasing hormone (GnRH) infusion was used in one and clomiphene in another patient which resulted in successful pregnancies. Males responded less favorably than females. Gonadotrophins were used in 14 pulsatile HH patients for 6-24 months with variable outcomes. Although successful paternity did not occur, successful spermatogenesis with oligoasthenospermia occurred in six men. Two had in vitro fertilization (IVF) and intracytoplasmic injections (ICSI), which resulted in healthy offspring. In conclusion, successful pregnancy and fertility are feasible in β-TM patients with diminished gonadal reserves. Better outcome is expected in females than males. We report the first two cases of paternity following IVF and ICSI in β-TM patients with HH.

摘要

改善重型β地中海贫血(β-TM)患者的护理给患者组建家庭带来了新的挑战。我们报告了15年来30对夫妇采用辅助生殖技术(ART)后进行28次妊娠的经验。60%的女性患有低促性腺激素性性腺功能减退(HH)且卵巢储备功能下降,对促性腺激素反应良好,三个周期内成功率达80%。1例患者采用脉冲式促性腺激素释放激素(GnRH)输注,另1例患者使用克罗米芬,均成功妊娠。男性的反应不如女性。14例脉冲式HH男性患者使用促性腺激素6 - 24个月,结果各异。虽然未实现成功生育,但6名男性出现了少弱精子症的成功精子发生。2例患者进行了体外受精(IVF)和卵胞浆内单精子注射(ICSI),并诞下健康后代。总之,性腺储备功能下降的β-TM患者成功妊娠和生育是可行的。女性的结局预计优于男性。我们报告了首例2例HH型β-TM患者经IVF和ICSI后成功生育的病例。

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