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性腺组织冷冻保存用于性发育差异儿童。

Gonadal Tissue Cryopreservation for Children with Differences of Sex Development.

机构信息

Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA,

Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA,

出版信息

Horm Res Paediatr. 2019;92(2):84-91. doi: 10.1159/000502644. Epub 2019 Sep 11.

Abstract

INTRODUCTION

Infertility is common for individuals with differences of sex development (DSD) and is a significant concern to these individuals. Fertility potential in many DSD conditions is poorly understood. Gonadal tissue cryopreservation (GTC) for fertility preservation (FP) is offered to children with cancer undergoing gonadotoxic therapy. Our team sought to expand the field of FP by offering and evaluating the success of GTC for individuals with DSD.

MATERIALS AND METHODS

GTC was offered to patients with DSD undergoing prophylactic gonadectomy, after extensive multidisciplinary counseling. For those who elected to attempt GTC, data were retrospectively abstracted, including: DSD diagnosis, age at gonadectomy, indication for gonadectomy, pathology results, and final decision about long-term gonadal tissue storage.

RESULTS

Ten patients were enrolled to attempt GTC, with a mean age of 11.5 years (range 1-18). Five of the 10 patients had germ cells (GCs) present. Diagnoses (age at gonadectomy) for patients with GCs included ovotesticular DSD (13 months), mixed gonadal dysgenesis (17 months), partial gonadal dysgenesis (3 years), partial androgen insensitivity syndrome (11 years), and mixed gonadal dysgenesis (12 years). Four of the 5 subjects with GCs elected for GTC. One opted against GTC, citing immature gametes that did not match gender identity.

CONCLUSION

GTC at the time of gonadectomy for patients with DSD is feasible. In many patients, GCs are present. While questions remain about the timing of gonadectomy, quality of GCs, and future success for use of the tissue based on technological advancement, GTC represents a novel approach to experimental FP for individuals with DSD.

摘要

引言

性发育差异(DSD)患者普遍存在不孕问题,这是他们关注的重要问题。许多 DSD 情况下的生育潜力尚未得到充分了解。为了进行生育力保存(FP),对接受性腺毒性治疗的癌症患儿提供了性腺组织冷冻保存(GTC)。我们的团队寻求通过提供和评估 GTC 对 DSD 患者的成功来扩大 FP 领域。

材料和方法

对接受预防性性腺切除术的 DSD 患者提供 GTC,并进行广泛的多学科咨询。对于选择尝试 GTC 的患者,回顾性提取数据,包括:DSD 诊断、性腺切除术年龄、性腺切除术指征、病理结果以及长期性腺组织储存的最终决定。

结果

10 名患者尝试进行 GTC,平均年龄为 11.5 岁(范围 1-18 岁)。10 名患者中有 5 名存在生殖细胞(GCs)。存在 GCs 的患者的诊断(性腺切除术年龄)包括卵睾性 DSD(13 个月)、混合性腺发育不全(17 个月)、部分性腺发育不全(3 岁)、部分雄激素不敏感综合征(11 岁)和混合性腺发育不全(12 岁)。5 名存在 GCs 的患者中有 4 名选择了 GTC。有 1 名患者选择了不进行 GTC,理由是不成熟的配子与性别认同不匹配。

结论

在 DSD 患者行性腺切除术时进行 GTC 是可行的。在许多患者中,存在 GCs。虽然关于性腺切除术的时机、GCs 的质量以及基于技术进步对组织未来使用的成功仍存在疑问,但 GTC 代表了一种针对 DSD 患者的新型实验性 FP 方法。

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