Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Lancet Diabetes Endocrinol. 2016 Mar;4(3):265-274. doi: 10.1016/S2213-8587(15)00380-0. Epub 2016 Feb 4.
Central precocious puberty results from the premature activation of the hypothalamic-pituitary-gonadal axis. It mimics physiological pubertal development, although at an inappropriate chronological age (before 8 years in girls and 9 years in boys). It can be attributable to cerebral congenital malformations or acquired insults, but the cause in most cases in girls remains unknown. MKRN3 gene defects have been identified in familial disease, with important basic and clinical results. Indeed, genetic analysis of this gene should be included in the routine clinical investigation of familial and idiopathic cases of central precocious puberty. Gonadotropin-releasing hormone agonists are the gold-standard treatment. The assessment and management of this disease remain challenging for paediatric endocrinologists. In this Series paper, we describe current challenges involving the precise diagnosis and adequate treatment of this disorder.
中枢性性早熟是由于下丘脑-垂体-性腺轴过早激活所致。其表现类似于生理性青春发育，但发生在不适当的年龄（女孩 8 岁前，男孩 9 岁前）。它可能与脑先天性畸形或后天损伤有关，但大多数女孩的病因仍不清楚。MKRN3 基因突变已在家族性疾病中被发现，具有重要的基础和临床意义。事实上，该基因的遗传分析应纳入家族性和特发性中枢性性早熟病例的常规临床研究。促性腺激素释放激素激动剂是目前的金标准治疗方法。儿科内分泌学家在评估和管理这种疾病时仍面临挑战。在本系列论文中，我们描述了目前在准确诊断和适当治疗这种疾病方面所面临的挑战。
