The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty.

IF 22 1区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Vinicius N Brito, Ana P M Canton, Carlos Eduardo Seraphim, Ana Paula Abreu, Delanie B Macedo, Berenice B Mendonca, Ursula B Kaiser, Jesús Argente, Ana Claudia Latronico
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Abstract

The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including congenital and acquired causes that can be associated with structural or functional brain alterations. All causes of CPP culminate in the premature pulsatile secretion of hypothalamic GnRH and, consequently, in the premature reactivation of hypothalamic-pituitary-gonadal axis. The activation of excitatory factors or suppression of inhibitory factors during childhood represent the 2 major mechanisms of CPP, revealing a delicate balance of these opposing neuronal pathways. Hypothalamic hamartoma (HH) is the most well-known congenital cause of CPP with central nervous system abnormalities. Several mechanisms by which hamartoma causes CPP have been proposed, including an anatomical connection to the anterior hypothalamus, autonomous neuroendocrine activity in GnRH neurons, trophic factors secreted by HH, and mechanical pressure applied to the hypothalamus. The importance of genetic and/or epigenetic factors in the underlying mechanisms of CPP has grown significantly in the last decade, as demonstrated by the evidence of genetic abnormalities in hypothalamic structural lesions (eg, hamartomas, gliomas), syndromic disorders associated with CPP (Temple, Prader-Willi, Silver-Russell, and Rett syndromes), and isolated CPP from monogenic defects (MKRN3 and DLK1 loss-of-function mutations). Genetic and epigenetic discoveries involving the etiology of CPP have had influence on the diagnosis and familial counseling providing bases for potential prevention of premature sexual development and new treatment targets in the future. Global preventive actions inducing healthy lifestyle habits and less exposure to endocrine-disrupting chemicals during the lifespan are desirable because they are potentially associated with CPP.

中枢性性早熟病因中的先天和后天机制。
中枢性性早熟(CPP)的病因多种多样,包括先天性和后天性原因,可能与大脑结构或功能改变有关。导致中枢性性早熟的所有原因最终都会导致下丘脑 GnRH 的过早搏动性分泌,进而导致下丘脑-垂体-性腺轴的过早重新激活。儿童期兴奋因子的激活或抑制因子的抑制代表了 CPP 的两种主要机制,揭示了这些相互对立的神经元通路之间的微妙平衡。下丘脑火腿肠瘤(HH)是导致中枢神经系统异常的 CPP 最著名的先天性原因。火腿肠瘤导致 CPP 的几种机制已被提出,包括与下丘脑前部的解剖连接、GnRH 神经元的自主神经内分泌活动、HH 分泌的营养因子以及对下丘脑施加的机械压力。过去十年中,遗传和/或表观遗传因素在 CPP 潜在机制中的重要性显著增加,下丘脑结构性病变(如火腿肠瘤、胶质瘤)中的遗传异常、与 CPP 相关的综合症(Temple、Prader-Willi、Silver-Russell 和 Rett 综合症)以及单基因缺陷(MKRN3 和 DLK1 功能缺失突变)引起的孤立 CPP 的证据都证明了这一点。涉及 CPP 病因的遗传学和表观遗传学发现对诊断和家族咨询产生了影响,为潜在的性早熟预防和未来的新治疗目标提供了依据。我们希望采取全球性的预防措施,促使人们养成健康的生活习惯,并在一生中减少接触干扰内分泌的化学物质,因为这些因素可能与 CPP 有关。
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来源期刊
Endocrine reviews
Endocrine reviews 医学-内分泌学与代谢
CiteScore
42.00
自引率
1.00%
发文量
29
期刊介绍: Endocrine Reviews, published bimonthly, features concise timely reviews updating key mechanistic and clinical concepts, alongside comprehensive, authoritative articles covering both experimental and clinical endocrinology themes. The journal considers topics informing clinical practice based on emerging and established evidence from clinical research. It also reviews advances in endocrine science stemming from studies in cell biology, immunology, pharmacology, genetics, molecular biology, neuroscience, reproductive medicine, and pediatric endocrinology.
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