Department of Oncology-Pathology, Laboratory of Translational Fertility Preservation, Karolinska Institutet, Stockholm, Sweden.
Department of Reproductive Medicine, Division of Gynecology and Reproduction, Karolinska University Hospital, Stockholm, Sweden.
Front Endocrinol (Lausanne). 2023 Mar 3;14:1135249. doi: 10.3389/fendo.2023.1135249. eCollection 2023.
In Scandinavian countries, programs for fertility preservation (FP) are offered free of charge at tertiary-care university hospitals to all patients facing infertility risks due to malignant diagnoses or benign conditions. In this prospective study we aimed to investigate trends and outcomes of FP indicated by a diagnosis of Turner syndrome.
Prospective cohort study of patients with Turner karyotype receiving fertility preservation counselling at the Karolinska University Hospital between 1 January 1999 and 31 December 2021.
The cohort included 100 women and girls that received counselling, whereof 27% were prepubertal girls, 59% were adolescents and 14% of adult age. Before 2006 all patients were referred for fertility counselling at the time of Turner diagnosis. Based on updated guidelines, mainly patients who showed signs of puberty were referred after 2006. As a result, spontaneous menarche was more common in the later period. In total, 39% of the cohort had monosomal karyotype (45X), 20% had 45X/46XX or 45X/47XXX mosaicisms and 36% had an X-chromosomal structural anomaly. Ovarian tissue cryopreservation was planned for 73% of all patients, and oocyte cryopreservation following gonadotropin stimulation was planned for 10% of the patients. Follicles were present in 25% of all biopsies analyzed. Adolescents were more likely to have follicles present (30%) than prepubertal girls (16%) or adult women (17%). The ten patients that underwent gonadotropin stimulation for oocyte cryopreservation underwent a total of 15 cycles and eight patients successfully preserved oocytes. In total, 26% of the cohort has undergone fertility treatment or expressed further interest in fertility preservation. Six women have given birth using donated oocytes and three following spontaneous conception. Two women have undergone re-transplantation of cryopreserved ovarian tissue, without regaining ovarian function, and none of the women that have cryopreserved oocytes has returned to use them.
Fertility counselling for girls with Turner syndrome should ideally be offered at onset of spontaneous puberty to improve the chances of fertility preservation. Since the girls and women in this cohort are still young, the return rate and utilization of the preserved tissue and oocytes is expected to increase with time.
ClinicalTrials.gov, identifier NTC04602962.
在斯堪的纳维亚国家，所有因恶性诊断或良性疾病而面临不孕风险的患者，都可在三级保健大学医院免费获得生育力保存（FP）项目。在这项前瞻性研究中，我们旨在调查特纳综合征诊断提示的 FP 趋势和结果。
对 1999 年 1 月 1 日至 2021 年 12 月 31 日在卡罗林斯卡大学医院接受生育力保存咨询的特纳核型患者进行前瞻性队列研究。
该队列包括 100 名接受咨询的女性和女孩，其中 27%为青春期前女孩，59%为青少年，14%为成年。2006 年之前，所有患者均在特纳诊断时被转介进行生育咨询。根据最新指南，主要是出现青春期迹象的患者在 2006 年后被转介。因此，后期自发性月经初潮更为常见。该队列中共有 39%的患者为单体核型（45X），20%为 45X/46XX 或 45X/47XXX 嵌合体，36%为 X 染色体结构异常。计划对所有患者中的 73%进行卵巢组织冷冻保存，对 10%的患者进行促性腺激素刺激后的卵母细胞冷冻保存。在分析的所有活检中，有 25%的活检存在卵泡。青春期女孩（30%）比青春期前女孩（16%）或成年女性（17%）更有可能存在卵泡。接受促性腺激素刺激进行卵母细胞冷冻保存的 10 名患者共进行了 15 个周期，8 名患者成功保存了卵母细胞。该队列共有 26%的患者已接受生育治疗或对生育力保存表示进一步兴趣。6 名女性使用捐赠的卵母细胞生育，3 名女性自然受孕。两名女性进行了冷冻卵巢组织的再移植，但未恢复卵巢功能，且没有使用冷冻卵母细胞的女性返回使用。
特纳综合征女孩的生育咨询理想情况下应在自发青春期开始时提供，以提高生育力保存的机会。由于该队列中的女孩和女性仍然很年轻，因此随着时间的推移，保存组织和卵母细胞的返回率和利用率有望增加。
ClinicalTrials.gov，标识符 NTC04602962。
