性早熟:发病机制、临床表现和治疗概述
Precocious puberty: An overview of pathogenesis, clinical presentation, and management.
Precocious puberty: An overview of pathogenesis, clinical presentation, and management.
性早熟是指第二性征在青春期启动平均年龄以下2.5个标准差(女孩8岁,男孩9岁)之前出现,是一种复杂的临床状况,对儿童及其父母具有相当大的生理和心理影响。性早熟分为两种类型——中枢性(促性腺激素依赖性)和外周性(非促性腺激素依赖性)。中枢性性早熟的病因包括各种基因突变、综合征和中枢神经系统疾病,这些因素过早激活下丘脑-垂体-性腺轴,导致性类固醇分泌,从而诱发性青春期变化。外周性性早熟通常继发于孤立的性类固醇来源,如肿瘤、外源性类固醇,或作为McCune-Albright综合征的一部分。性早熟的长期后果,尤其是中枢性类型,包括身材矮小和心理问题。对于表现为性早熟特征的儿童,必须进行全面评估,首先从详细病史采集、体格检查开始,并启动适当的检查,随后对性早熟进行分类。多学科团队(由儿科医生、青少年妇科医生、儿科内分泌科医生、遗传学家和临床心理学家组成)对于管理至关重要。治疗目标应是阻止或逆转青春期变化,为儿童及其家庭提供咨询和支持,并处理遗传病因对家庭的影响(如有)。若不治疗,性早熟可能对儿童产生相当大的负面心理和医学影响。
Precocious puberty, defined as the onset of secondary sexual characteristics at 2.5 SD below the mean age of onset of puberty (8 years in girls and 9 years in boys) is a complex clinical condition that has considerable physiological and psychological consequences on children and their parents. There are two types - central (gonadotrophin-dependent) and peripheral (gonadotrophin independent). Among the causes of central precocious puberty are various genetic mutations, syndromes and central nervous system disorders that prematurely activate the hypothalamic pituitary gonadal axis leading to the secretion of sex steroids that induced pubertal changes. Peripheral precocious puberty is commonly secondary to isolated sources of sex steroids such as tumours, exogenous steroids or as part of the McCune Albright syndrome. Long-term consequences of precocious puberty especially the central type include short stature and psychological problems. Children presenting with features of precocious puberty (PP) must be thoroughly assessed starting with a detailed history, physical examination and initiation of appropriate investigations followed by categorisation of the PP. A multidisciplinary team (consisting of a paediatrician an adolescent gynaecologist, a paediatric endocrinologist, a geneticist and a clinical psychologist) is essential for management. Treatment should aim at arresting or reversing the pubertal changes, counselling and support both for the children and their families and, addressing the implications for genetic causes for the family (if any). Untreated, precocious puberty may have considerable negative psychological and medical impact on the child.
Wafaa B Hammad, Onyinye A Nwachukwu, Mandy Abushama, Badreldeen Ahmed, Justin C Konje. Precocious puberty: An overview of pathogenesis, clinical presentation, and management.. Best practice & research. Clinical obstetrics & gynaecology. 2026; doi:10.1016/j.bpobgyn.2026.102716.
Wafaa B Hammad, Onyinye A Nwachukwu, Mandy Abushama, Badreldeen Ahmed, Justin C Konje (2026). Precocious puberty: An overview of pathogenesis, clinical presentation, and management.. Best practice & research. Clinical obstetrics & gynaecology. https://doi.org/10.1016/j.bpobgyn.2026.102716
Wafaa B Hammad, Onyinye A Nwachukwu, Mandy Abushama, Badreldeen Ahmed, Justin C Konje. Precocious puberty: An overview of pathogenesis, clinical presentation, and management.[J]. Best practice & research. Clinical obstetrics & gynaecology, 2026 doi:10.1016/j.bpobgyn.2026.102716.
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