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淋巴腺功能及其演变 46, XX 丸/卵巢 DSD 中
Margherita Sepich1, Silvano Bertelloni1, Nina Tyutyusheva1
1Pediatrics Unit, Endocrinology Section, University of Pisa, Pisa University Hospital, Pisa, Italy.
The Journal of clinical endocrinology and metabolism
|November 3, 2025
概括
这项研究表明,大多数患有丸性DSD (T-DSD) 和卵巢性DSD (OT-DSD) 的男性和女性在年轻成年时经历了原发性淋巴缺陷. 一些患有OT-DSD的男性尽管丸激素水平正常,但可能有持续的小阴茎.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 儿科内分泌学 儿科内分泌学
背景情况:
- 有限的数据存在于长期的性腺功能的人与丸性发育障碍 (T-DSD) 和卵巢性发育障碍 (OT-DSD).
- 了解生殖腺功能的自然史对于管理这些复杂的疾病至关重要.
研究的目的:
- 评估一大批被诊断患有T-DSD和OT-DSD的患者的国际队列中的性腺结局.
- 在这些DSD患者中描述生殖腺的发育和功能.
主要方法:
- 从I-DSD注册表分析了29个T-DSD和32个OT-DSD病例的数据,涉及20个国际中心.
- 评估包括出生时的性别分配,性别重新分配,阴茎长度,青春期发育,血清淋巴激素,水平和瘤监测.
主要成果:
- 大多数在出生时注册为男性的个人仍然是男性,很少有性别重新分配. 在T-DSD和OT-DSD中,伸展的阴茎长度通常在婴儿期低于第5个百分点.
- 与T-DSD相比,患有OT-DSD的青少年男性的阴茎长度明显更短. 自发性青春期发生在50%的男性和14岁以上的女性中.
- 在青少年和成年人中,血清淋巴激素的升高是常见的,表明原发性淋巴缺陷,尽管在男性中,水平通常是正常的. 在平均年龄为11.3岁之前,没有报告发生淋巴腺瘤.
结论:
- 大多数患有T-DSD和OT-DSD的男性和女性在年轻成年时表现出原发性淋巴缺陷的生化证据.
- 在OT-DSD的男性中,即使丸激素度正常,微阴茎也可以持续到年轻的成年期,这突出了这个子组的特定挑战.
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