Department of Pediatrics, Universidad Autónoma de Madrid, Spain; Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, Instituto de Investigación Fundación Jiménez Díaz, Madrid, Spain.
Department of Pediatrics, Universidad Autónoma de Madrid, Spain; Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain; IMDEA Food Institute, CEIUAM+CSIC, Madrid, Spain.
Best Pract Res Clin Endocrinol Metab. 2019 Jun;33(3):101262. doi: 10.1016/j.beem.2019.01.003. Epub 2019 Jan 22.
Precocious puberty is defined as the appearance of secondary sex characteristics before 8 years of age in girls and before 9 years of age in boys. Central precocious puberty (CPP) is diagnosed when activation of the hypothalamic-pituitary axis is identified. It is a rare disease with a clear female predominance. A background of international adoption increases its risk, with other environmental factors such as endocrine disruptors also being associated with CPP. The causes of CPP are heterogeneous, with alterations of the CNS being of special interest. Physical injuries of the CNS are more frequent in boys, while idiopathic etiology is more prevalent among girls. However, in the last decade the number of idiopathic cases has diminished thanks to the discovery of mutations in different genes, including KISS1, KISS1R, MKRN3, and DLK1 that cause CPP. For the diagnosis of CPP, hormone studies are needed in addition to the clinical data regarding signs of pubertal onset. For this purpose, the GnRH test continues to be the gold standard. Imaging analyses, such as bone age and brain MRI, are also very useful. Furthermore, genetic testing must be incorporated in the diagnosis of CPP, especially in familial cases. Early puberty has been related to various consequences in the medium and long term such as behavioral problems, breast cancer, obesity, and metabolic comorbidities. However, there are few studies that have exclusively analyzed patients with CPP. GnRH analogs are the most frequent treatment election with the main objective being to improve adult height. Currently, there are new formulations that are being investigated.
性早熟是指女孩在 8 岁之前和男孩在 9 岁之前出现第二性征。中枢性性早熟（CPP）是指下丘脑-垂体轴被激活时被诊断出来的。它是一种罕见的疾病，女性发病率明显高于男性。国际收养的背景会增加其风险，其他环境因素，如内分泌干扰物，也与 CPP 有关。CPP 的病因具有异质性，中枢神经系统的改变特别引人注目。中枢神经系统的物理损伤在男孩中更为常见，而特发性病因在女孩中更为常见。然而，在过去十年中，由于发现了不同基因（包括 KISS1、KISS1R、MKRN3 和 DLK1）的突变导致 CPP，特发性病例的数量有所减少。为了诊断 CPP，除了有关青春期开始迹象的临床数据外，还需要进行激素研究。为此，促性腺激素释放激素试验仍然是金标准。影像学分析，如骨龄和脑 MRI，也非常有用。此外，基因检测必须纳入 CPP 的诊断，特别是在家族病例中。早期青春期与中、长期的各种后果有关，如行为问题、乳腺癌、肥胖和代谢合并症。然而，很少有研究专门分析 CPP 患者。促性腺激素释放激素类似物是最常见的治疗选择，主要目的是改善成年身高。目前，正在研究新的制剂。
