47, XXX核型且经历过早发性卵巢功能不全（POF）的患者：两例病例报告。
Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports.
作者信息
Sugawara Nobuo, Maeda Machiko, Manome Tomomi, Nagai Rie, Araki Yasuhisa
机构信息
Iwaki Women's Clinic 3-2 Ookishita, Uchigo 973-8403 Iwaki Fukushima Japan.
Institute for Advanced Reproductive Medical Technology 909-21 Ishii, Fujimi 371-0105 Maebashi Gunma Japan.
出版信息
Reprod Med Biol. 2013 Jul 5;12(4):193-195. doi: 10.1007/s12522-013-0158-9. eCollection 2013 Oct.
PURPOSE
Pubertal onset and sexual development are usually normal in 47, XXX individuals; however, we report two cases of premature ovarian failure (POF) in infertile women with trisomy X.
METHODS
Chromosome analysis was conducted with G-banding and fluorescence in situ hybridization using X- and Y-bearing probe. Hormonal administration was primarily Kaufmann's treatment or long-term estradiol treatment, followed by withdrawal bleeding from estrogen and progesterone.
RESULTS
Two patients with trisomy X, aged 31 (patient 1) and 27 years (patient 2), were diagnosed with POF due to hypergonadotropic hypogonadism. Their ovaries were small. Patient 1 had a FSH level of 44.6 mIU/ml and patient 2 had a FSH level of 74.6 mIU/ml. In patient 1, with Kaufmann's treatment, the FSH decreased to 13.5 mIU/ml; however, follicle growth did not occur following HMG stimulation. In patient 2, FSH did not decrease despite Kaufmann's treatment; therefore, she was given a GnRH agonist and her FSH level decreased to 7.1 mIU/ml. However, her ovaries never responded to HMG stimulation.
CONCLUSION
We report on two patients with a 47, XXX karyotype who became infertile due to POF. We recommend that when a patient is diagnosed with trisomy X, the possibility of POF must be strongly considered.
目的
47，XXX个体的青春期启动和性发育通常正常；然而，我们报告了两例X三体不育女性发生卵巢早衰（POF）的病例。
方法
采用G显带和使用X和Y染色体探针的荧光原位杂交进行染色体分析。激素治疗主要采用考夫曼疗法或长期雌二醇治疗，随后进行雌激素和孕激素撤血试验。
结果
两名X三体患者，年龄分别为31岁（患者1）和27岁（患者2），因高促性腺激素性性腺功能减退被诊断为POF。她们的卵巢较小。患者1的促卵泡生成素（FSH）水平为44.6 mIU/ml，患者2的FSH水平为74.6 mIU/ml。患者1采用考夫曼疗法后，FSH降至13.5 mIU/ml；然而，人绝经期促性腺激素（HMG）刺激后卵泡未生长。患者2采用考夫曼疗法后FSH未下降；因此，给予她促性腺激素释放激素（GnRH）激动剂，其FSH水平降至7.1 mIU/ml。然而，她的卵巢对HMG刺激无反应。
结论
我们报告了两名47，XXX核型的患者因POF导致不育。我们建议，当诊断出患者为X三体时，必须高度考虑POF的可能性。
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