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在17β-HSD 3和5alpha-reductase缺乏症中,淋巴腺功能和病理学
Lidewij S Boogers1,2, Hennie T Brüggenwirth3,4, Katja P Wolffenbuttel4,5
1Department of Paediatric Endocrinology, Erasmus University Medical Centre, 3015 GD Rotterdam, The Netherlands.
European journal of endocrinology
|January 9, 2025
概括
患有17β-Hydroxysteroid脱酶3缺乏症 (17β-HSDD) 和5α-减少酶2型缺乏症 (5α-RD) 的个体经常改变性别. 将淋巴切除术推迟到青春晚期得到了自发性青春期和罕见的生殖细胞恶性瘤的研究结果的支持.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 生殖医学 生殖医学
背景情况:
- 17β-Hydroxysteroid脱酶3缺乏 (17β-HSDD) 和5α-减少酶2型缺乏 (5α-RD) 是罕见的46,XY性别发育差异 (DSD).
- 在这些条件下,关于长期性腺功能和病理学的知识有限.
研究的目的:
- 为了研究17β-HSDD和5α-RD患者的长期淋巴腺功能.
- 评估这些罕见的DSD患者的淋巴腺病理.
主要方法:
- 使用I-DSD注册表的数据进行了回顾性多中心队列研究.
- 包括16岁以上的患者,基因确认17β-HSDD或5α-RD.
- 收集表型,实验室,激素治疗和生殖腺病理学数据.
主要成果:
- 在17β-HSDD中,所有患者都是女性,有一个性别改变;没有人患有生殖细胞 (前恶性病).
- 在5α-RD中,71%是女性,观察到性别变化;没有发现生殖细胞 (前) 恶性病.
- 自发性青春期发生在 gonads in situ;一些患者接受了激素治疗.
结论:
- 具有17β-HSDD和5α-RD个体的显著比例经历了性别变化.
- 在这些条件下,生殖细胞 (前恶性) 似乎不常见,直到成年早期.
- 将淋巴切除术推迟到青春晚期得到了这些发现的支持.
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