患有麦库恩-阿尔布赖特综合征的女孩的外围早熟青春期:一个案例系列
Aline Guimarães Faria1, Luciana R Montenegro1, Alexander Augusto Lima Jorge2
1Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Archives of endocrinology and metabolism
|May 14, 2025
概括
在女孩中,麦考恩-阿尔布赖特综合征 (MAS) 可以导致外围早熟青春期 (PPP). 医学治疗有效地管理了青春期,保持了成人身高,并在成年后支持正常的生殖功能.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 遗传学 遗传学 是一个
- 生殖健康 生殖健康
背景情况:
- 麦库恩-阿尔布赖特综合征 (MAS) 是一种罕见的遗传疾病,可导致女孩患麦库恩-阿尔布赖特综合征 (MAS).
- 周围早期青春期 (PPP) 是青春期的早期发作,由中枢神经系统以外的因素引起.
研究的目的:
- 描述诊断为患有马库恩-阿尔布赖特综合征 (MAS) 导致的外围早期青春期 (PPP) 的女孩的临床随访和结果.
主要方法:
- 对18名女性患者的人类测量和生殖数据的评估.
- 在外围白细胞DNA上使用数字PCR进行基因分析.
- 评估临床表现,荷尔蒙水平,骨年龄和治疗反应.
主要成果:
- 临床表现包括孤立的腹痛,带有阴道出血的腹痛或孤立的阴道出血,发病时平均年龄为3.3岁.
- 骨年龄平均提升了2.3年;57.1%的人出现了次要的中部早熟青春期.
- 像美德基酸和芳酶抑制剂这样的治疗可以实现部分到完全的青春期控制,平均成年人身高为-1.17SDS,大多数患者的初潮正常.
结论:
- 在患有麦库恩-阿尔布赖特综合征 (MAS) 的女孩中,对外围早期青春期 (PPP) 的医疗管理是有效的.
- 治疗可以保持成年人身高的潜力,并在成年后支持正常的生殖功能.
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