van der Coelen Sanne, Nadesapillai Sapthami, Peek Ronald, Braat Didi, Bocca Gianni, Finken Martijn, Hannema Sabine, de Kort Sandra, Sas Theo, Straetemans Saartje, van Tellingen Vera, Stuart Annemarie Verrijn, Fleischer Kathrin, van der Velden Janielle
Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, the Netherlands.
Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, the Netherlands.
Fertil Steril. 2025 Apr;123(4):583-592. doi: 10.1016/j.fertnstert.2024.10.025. Epub 2024 Oct 19.
To study the impact of unilateral ovariectomy for ovarian tissue cryopreservation (OTC) on the function of the remaining ovary in girls with Turner syndrome.
A prospective cohort study as a follow-up of OTC in a research setting (the TurnerFertility trial, NCT03381300).
A total of 28 girls with Turner syndrome with follicles in their cryopreserved ovarian cortex tissue, aged 5-19 years. Of the 28 girls, 21 had a 45,X/46,XX mosaic karyotype; 5 had structural aberrations of the X chromosome; 1 had a 45,X monosomy; and 1 had a 45,X/47,XXX karyotype.
Girls were monitored annually after OTC for pubertal development and levels of antimüllerian hormone (AMH), follicle-stimulating hormone, luteinizing hormone, estradiol, and inhibin B.
Thelarche, menarche, and onset of premature ovarian insufficiency.
The girls were monitored for a median duration of 3.4 years (maximum 6.6 years). The pubertal development of five prepubertal girls is still unknown; all were aged <10 years and had low gonadotropin and estradiol levels at the end of the follow-up. Seven of the eight girls of approximately pubertal age (10-12 years) experienced spontaneous thelarche, although one received medication to induce puberty. Eleven of the 14 girls between the ages of 14-17 years experienced spontaneous menarche; three other girls with thelarche still had ongoing puberty at the end of follow-up with normal gonadotropins and AMH levels above the detection limit. Approximately 6-12 months after OTC, a decline in AMH concentration was observed in 57% (16/28) of girls, followed by an increase in AMH concentration in the following years. Six of the total 28 girls started hormone replacement therapy because of symptoms of premature ovarian insufficiency, and all had AMH levels <0.50 μg/L before OTC.
Pubertal development progressed after unilateral ovariectomy for OTC in most girls with Turner syndrome. Hormone replacement therapy was required within a few years for girls with unfavorable parameters before OTC, such as AMH levels <0.50 μg/L. Decisions regarding OTC should be personalized, considering the girl's preferences and specific characteristics.
NCT03381300.
研究单侧卵巢切除术联合卵巢组织冷冻保存（OTC）对特纳综合征女孩剩余卵巢功能的影响。
一项前瞻性队列研究，作为在研究环境中对OTC的随访（特纳生育力试验，NCT03381300）。
共有28名特纳综合征女孩，其冷冻保存的卵巢皮质组织中有卵泡，年龄在5至19岁之间。在这28名女孩中，21名具有45,X/46,XX嵌合核型；5名有X染色体结构异常；1名有45,X单体型；1名有45,X/47,XXX核型。
女孩在OTC后每年接受监测，以观察青春期发育情况以及抗苗勒管激素（AMH）、促卵泡生成素、促黄体生成素、雌二醇和抑制素B的水平。
乳房发育、月经初潮和卵巢早衰的发生。
女孩的中位监测时间为3.4年（最长6.6年）。5名青春期前女孩的青春期发育情况仍不明；她们均年龄小于10岁，随访结束时促性腺激素和雌二醇水平较低。8名大约处于青春期年龄（10至12岁）的女孩中有7名经历了自发乳房发育，尽管有1名接受了诱导青春期的药物治疗。14名年龄在14至17岁之间的女孩中有11名经历了自发月经初潮；另外3名有乳房发育的女孩在随访结束时仍处于青春期，促性腺激素正常且AMH水平高于检测下限。在OTC后约6至12个月，57%（16/28）的女孩AMH浓度下降，随后几年AMH浓度升高。28名女孩中有6名因卵巢早衰症状开始激素替代治疗，且所有女孩在OTC前AMH水平均<0.50μg/L。
对于大多数特纳综合征女孩，单侧卵巢切除术联合OTC后青春期发育仍在进展。对于OTC前参数不佳的女孩，如AMH水平<0.50μg/L，在几年内需要进行激素替代治疗。关于OTC的决策应个性化，考虑女孩的偏好和具体特征。
NCT03381300。
