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特纳综合征患者 45,X 单体型不应被排除在生育力保存服务之外。

Why Turner patients with 45, X monosomy should not be excluded from fertility preservation services.

机构信息

Obstetrics and Gynaecology, Radboud University Medical Centre, Nijmegen, the Netherlands.

Medical Ethics, Radboud University Medical Centre, Nijmegen, the Netherlands.

出版信息

Reprod Biol Endocrinol. 2022 Sep 22;20(1):143. doi: 10.1186/s12958-022-01015-z.

Abstract

In this case report, we highlight the practical dilemma, i.e. to perform ovarian tissue cryopreservation surgery in a 45, X Turner Syndrome patient or not, by reporting on the presence of follicles in a 13-year-old female diagnosed with 45, X monosomy and an unmeasurable anti-müllerian hormone serum level. We compare our results with previous research, highlight the challenges we faced in this case and provide recommendations for daily practice. Hereby, we demonstrate that excluding certain subgroups of Turner Syndrome patients (e.g. monosomy patients, and/or girls with an anti-müllerian hormone level below 2.0 ng/l) may be premature, especially based on the current state of published research data. This practical example of a challenging dilemma in the counselling of Turner Syndrome patients for fertility preservation is of interest for clinicians involved in fertility counselling and Turner Syndrome care.

摘要

在本病例报告中,我们通过报告一名 13 岁被诊断为 45,X 单体综合征且血清抗苗勒管激素水平无法测量的女性中存在卵泡的情况,强调了实际存在的困境,即是否对 45,X 特纳综合征患者进行卵巢组织冷冻保存手术。我们将我们的结果与以前的研究进行了比较,强调了我们在这种情况下所面临的挑战,并为日常实践提供了建议。通过这种方式,我们表明排除特纳综合征患者的某些亚组(例如单体综合征患者和/或抗苗勒管激素水平低于 2.0ng/l 的女孩)可能为时过早,尤其是基于当前已发表的研究数据的情况。对于参与生育咨询和特纳综合征护理的临床医生来说,这是特纳综合征患者生育力保存咨询中具有挑战性的困境的实际例子。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71bc/9494871/c8dc706acd51/12958_2022_1015_Fig1_HTML.jpg

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