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利用卵母细胞冷冻保存对性染色体疾病患者进行生育力保存:描述结局的病例系列。

The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes.

机构信息

New York University Grossman School of Medicine, 550 First Avenue, New York, NY, 10016, USA.

New York University Langone Prelude Fertility Center, 660 First Avenue, New York, NY, 10016, USA.

出版信息

J Assist Reprod Genet. 2022 May;39(5):1143-1153. doi: 10.1007/s10815-022-02469-1. Epub 2022 Mar 23.

DOI:10.1007/s10815-022-02469-1
PMID:35320443
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9107557/
Abstract

PURPOSE

Characterize outcomes among adolescents and young adults (AYAs) with sex chromosome disorders (SCDs) after oocyte cryopreservation (OC) consultation.

METHODS

Retrospective case series of all AYA (< 25 years) patients with SCDs seen for OC consultation from 2011 to 2019 at a large, urban, academic fertility center. All AYA patients with an SCD seen for OC consult in the study time period were reviewed and included. Data collected included patient age, SCD type, number of patients who attempted OC, number of cycles attempted, and cycle outcomes.

RESULTS

Twenty-two patients were included: 9 with Turner syndrome, 12 with mosaic Turner syndrome, and 1 with 47,XXX. Mean age at consult was 14.7 ± 3.5 years. Fourteen patients elected for OC: 5 with Turner syndrome, 8 with mosaic Turner syndrome, and 1 47,XXX who pursued 31 OC cycles total. Of those 14 patients, 10 underwent retrieval, 9 froze oocytes, and 8 froze mature (MII) oocytes. Seven patients underwent > 1 cycle and 7 had ≥ 1 cancelation. 3/3 patients who pursued cycles after 1st cancelation never got to retrieval. Age, SCD type, and baseline FSH did not predict ability to freeze MIIs. One patient returned after OC and attempted 4 ovulation induction cycles and 2 IVF cycles; all were canceled for low response.

CONCLUSIONS

AYA patients with SCDs have a high risk of poor response and cycle cancelation but the majority froze MIIs. Thus, setting expectations is important. A larger sample size is needed to evaluate possible clinical predictors of success.

摘要

目的

描述卵母细胞冷冻保存 (OC) 咨询后性染色体疾病 (SCD) 青少年和年轻成人 (AYA) 的结局。

方法

回顾性病例系列研究,纳入 2011 年至 2019 年期间在一家大型城市学术生育中心因 SCD 接受 OC 咨询的所有 AYA(<25 岁)患者。研究期间所有因 SCD 接受 OC 咨询的 AYA 患者均进行了回顾性研究。收集的数据包括患者年龄、SCD 类型、尝试 OC 的患者人数、尝试的周期数和周期结局。

结果

共纳入 22 例患者:9 例特纳综合征,12 例特纳综合征嵌合体,1 例 47,XXX。咨询时的平均年龄为 14.7±3.5 岁。14 例患者选择 OC:5 例特纳综合征,8 例特纳综合征嵌合体,1 例 47,XXX 共进行了 31 个 OC 周期。这 14 例患者中,10 例进行了取卵,9 例冷冻了卵母细胞,8 例冷冻了成熟 (MII) 卵母细胞。7 例患者进行了>1 个周期,7 例患者有≥1 次取消。在第一次取消后继续进行周期的 3 例患者从未进入取卵阶段。年龄、SCD 类型和基础 FSH 均不能预测冷冻 MII 的能力。1 例患者在 OC 后返回并尝试了 4 个促排卵周期和 2 个 IVF 周期;均因低反应而取消。

结论

SCD AYA 患者的反应不良和周期取消风险较高,但大多数患者都能冷冻 MII。因此,设定预期非常重要。需要更大的样本量来评估成功的可能临床预测因素。

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本文引用的文献

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The epidemiology of sex chromosome abnormalities.性染色体异常的流行病学。
Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):202-215. doi: 10.1002/ajmg.c.31805. Epub 2020 Jun 7.
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Oocyte quantity and quality are crucial for a perspective of fertility preservation in women with Turner syndrome.对于特纳综合征女性的生育力保存前景而言,卵母细胞的数量和质量至关重要。
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Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association.特纳综合征患者的心血管健康:美国心脏协会的科学声明。
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