Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach.
Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach.
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中央早熟青春期：了解病因学和临床方法的最新进展。
DOI：
10.1111/cen.14475
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发表时间：
2021-10
影响因子：
3.2
通讯作者：
Kaiser UB
中科院分区：
文献类型：
--
作者：
Maione L;Bouvattier C;Kaiser UB
中枢性性早熟（CPP）是下丘脑-垂体-性腺（HPG）轴早期激活的结果。在下丘脑和GnRH神经元水平作用以控制青春期开始的复杂神经网络的知识的当前状态已经扩展，特别是在分子相互作用的背景下。沿着这些进展，青春期生理学和病理生理学的知识也增加了。本文综述了下丘脑水平HPG轴发生的调节异常引起CPP。青春期和青春期疾病的诊断的临床方法也进行了审查，特别侧重于CPP的病因。最近在家族性以及散发性CPP中发现的MKRN 3和DLK 1突变改变了CPP患者治疗方法的最新技术水平。基因的进步也产生了重要的影响，不仅仅是考虑青春期。与CPP相关的综合征性疾病和中枢神经系统病变也进行了讨论。如果不加以治疗，这些疾病可能导致不良的身体、心理和医疗后果。
Central precocious puberty (CPP) results from early activation of the hypothalamic-pituitary-gonadal (HPG) axis. The current state of knowledge of the complex neural network acting at the level of the hypothalamus and the GnRH neuron to control puberty onset has expanded, particularly in the context of molecular interactions. Along with these advances, the knowledge of pubertal physiology and pathophysiology has also increased. This review focuses on regulatory abnormalities occurring at the hypothalamic level of the HPG axis to cause CPP. The clinical approach to diagnosis of puberty and pubertal disorders is also reviewed, with a particular focus on aetiologies of CPP. The recent identification of mutations in MKRN3 and DLK1 in familial as well sporadic forms of CPP has changed the state of the art of the approach to patients with CPP. Genetic advances have also had important repercussions beyond consideration of puberty alone. Syndromic disorders and central nervous system lesions associated with CPP are also discussed. If untreated, these conditions may lead to adverse physical, psychosocial and medical outcomes.
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由印记基因MKRN3突变引起的中央早熟青春期。
DOI：
10.1056/nejmoa1302160
发表时间：
2013-06-27
期刊：
The New England journal of medicine
影响因子：
--
作者：
Abreu AP;Dauber A;Macedo DB;Noel SD;Brito VN;Gill JC;Cukier P;Thompson IR;Navarro VM;Gagliardi PC;Rodrigues T;Kochi C;Longui CA;Beckers D;de Zegher F;Montenegro LR;Mendonca BB;Carroll RS;Hirschhorn JN;Latronico AC;Kaiser UB
通讯作者：
Kaiser UB
影响因子：
2.1
作者：
Ge, Wei;Wang, Hai-Lian;Xu, Rui-Ying
通讯作者：
Xu, Rui-Ying
DOI：
10.1073/pnas.1834399100
发表时间：
2003-09-16
影响因子：
11.1
作者：
de Roux, N;Genin, E;Milgrom, E
通讯作者：
Milgrom, E
影响因子：
13.3
作者：
Avendano, S.;Vazquez, M. J.;Tena-Sempere, M.
通讯作者：
Tena-Sempere, M.
影响因子：
15.9
作者：
Donato, Jose, Jr.;Cravo, Roberta M.;Elias, Carol F.
通讯作者：
Elias, Carol F.