Post-graduate Program in Medical Sciences: Endocrinology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Endocrine Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Eur J Pediatr. 2021 Oct;180(10):3073-3087. doi: 10.1007/s00431-021-04022-1. Epub 2021 Mar 21.
The classic definition of precocious sexual maturation is the development of secondary sexual characteristics before 8 years of age in girls and before 9 years of age in boys. It is classified as central precocious puberty when premature maturation of the hypothalamic-pituitary-gonadal axis occurs, and as peripheral precocious puberty when there is excessive secretion of sex hormones, independent of gonadotropin secretion. Precocious sexual maturation is more common in girls, generally central precocious puberty of idiopathic origin. In boys, it tends to be linked to central nervous system abnormalities. Clinical evaluation should include a detailed history and physical examination, including anthropometric measurements, calculation of growth velocity, and evaluation of secondary sexual characteristics. The main sign to suspect the onset of puberty is breast tissue development (thelarche) in girls and testicular enlargement (≥4 mL) in boys. Hormonal assessment and imaging are required for diagnosis and identification of the etiology. Genetic testing should be considered if there is a family history of precocious puberty or other clinical features suggestive of a genetic syndrome. Long-acting gonadotropin-releasing hormone analogs are the standard of care for central precocious puberty management, while peripheral precocious puberty management depends on the etiology.Conclusion: The aim of this review is to address the epidemiology, etiology, clinical assessment, and management of precocious sexual maturation. What is Known: • The main sign to suspect the onset of puberty is breast tissue development (thelarche) in girls and testicular enlargement (≥4 mL) in boys. The classic definition of precocious sexual maturation is the development of secondary sexual characteristics before 8 years of age in girls and before 9 years of age in boys. • Long-acting gonadotropin-releasing hormone agonist (GnRHa) is the standard of care for CPP management, and adequate hormone suppression results in the stabilization of pubertal progression, a decline in growth velocity, and a decrease in bone age advancement. What is New: • Most cases of precocious sexual maturation are gonadotropin-dependent and currently assumed to be idiopathic, but mutations in genes involved in pubertal development have been identified, such as MKRN3 and DLK1. • A different preparation of long-acting GnRHa is now available: 6-month subcutaneous injection.
性早熟的经典定义是女孩在 8 岁前和男孩在 9 岁前出现第二性征发育。如果下丘脑-垂体-性腺轴过早成熟导致性早熟，称为中枢性性早熟；如果性激素过度分泌，与促性腺激素分泌无关，则称为外周性性早熟。性早熟在女孩中更为常见，通常为特发性中枢性性早熟。在男孩中，它往往与中枢神经系统异常有关。临床评估应包括详细的病史和体格检查，包括人体测量、生长速度计算和第二性征评估。怀疑青春期开始的主要迹象是女孩的乳房组织发育（乳房发育）和男孩的睾丸增大（≥4mL）。诊断和病因识别需要进行激素评估和影像学检查。如果有性早熟家族史或其他提示遗传综合征的临床特征，应考虑进行基因检测。长效促性腺激素释放激素类似物是中枢性性早熟管理的标准治疗方法，而外周性性早熟的管理取决于病因。结论：本综述旨在探讨性早熟的流行病学、病因、临床评估和管理。已知：• 怀疑青春期开始的主要迹象是女孩的乳房组织发育（乳房发育）和男孩的睾丸增大（≥4mL）。性早熟的经典定义是女孩在 8 岁前和男孩在 9 岁前出现第二性征发育。• 长效促性腺激素释放激素激动剂（GnRHa）是 CPP 管理的标准治疗方法，充分的激素抑制可稳定青春期进展，降低生长速度，减缓骨龄进展。新内容：• 大多数性早熟病例是促性腺激素依赖性的，目前被认为是特发性的，但已确定与青春期发育有关的基因发生突变，如 MKRN3 和 DLK1。• 现在有不同的长效 GnRHa 制剂可供选择：6 个月皮下注射。
