Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Inserm, Physiologie et Physiopathologie Endocriniennes, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, Université Paris-Saclay, Paris-Saclay University, Le Kremlin-Bicêtre, France.
Clin Endocrinol (Oxf). 2021 Oct;95(4):542-555. doi: 10.1111/cen.14475. Epub 2021 Apr 20.
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.
中枢性性早熟（CPP）是由下丘脑-垂体-性腺（HPG）轴的早期激活引起的。目前，人们对下丘脑和 GnRH 神经元水平上控制青春期开始的复杂神经网络的认识不断扩展，特别是在分子相互作用方面。随着这些进展，青春期生理学和病理生理学的知识也有所增加。本综述重点关注导致 CPP 的 HPG 轴下丘脑水平发生的调节异常。还回顾了青春期和青春期疾病的临床诊断方法，特别关注 CPP 的病因。最近在家族性和散发性 CPP 中发现了 MKRN3 和 DLK1 的突变，改变了 CPP 患者的治疗方法。遗传进展也对单纯考虑青春期以外的问题产生了重要影响。还讨论了与 CPP 相关的综合征性疾病和中枢神经系统病变。如果不治疗，这些情况可能会导致身体、心理社会和医疗方面的不良后果。
