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[外周性性早熟的病因、诊断及治疗的进一步进展]

[Further progress of the etiology,diagnosis and treatment of peripheral precocious puberty].

作者信息

Zhang J, Wan N J

机构信息

Department of Pediatrics, Beijing Jishuitan Hospital, Beijing 100035, China.

出版信息

Zhonghua Yu Fang Yi Xue Za Zhi. 2023 Jun 6;57(6):955-960. doi: 10.3760/cma.j.cn112150-20220713-00718.

Abstract

Peripheral precocious puberty(PPP),also known as puberty independent from hypothalamic-pituitary axis activation,is stimulated by hormones from other sources, with only partial sexual characteristics development but without mature sexual function. The secondary sexual characteristics development occurs before 7.5 years of age in girls and before 9 years of age in boys. Clinical manifestations are diverse, and PPP has varied etiology including congenital adrenal hyperplasia, McCune-Albright syndrome, ovarian cyst, adrenal tumor, ovarian tumor, testicular tumor, human chorionic gonadotropin producing tumor, familial male precocious puberty, aromatase excess syndrome, and environmental estrogen. Early identification of etiology, accurate differential diagnosis and prenatal gene screening play a significant role in the prevention, diagnosis and treatment of the disease.

摘要

外周性性早熟(PPP),也称为独立于下丘脑 - 垂体轴激活的性早熟,由其他来源的激素刺激引起,仅出现部分性征发育但性功能未成熟。女孩在7.5岁前、男孩在9岁前出现第二性征发育。临床表现多样,PPP的病因各不相同,包括先天性肾上腺皮质增生症、McCune - Albright综合征、卵巢囊肿、肾上腺肿瘤、卵巢肿瘤、睾丸肿瘤、产生人绒毛膜促性腺激素的肿瘤、家族性男性性早熟、芳香化酶过剩综合征和环境雌激素。早期病因识别、准确的鉴别诊断和产前基因筛查对该疾病的预防、诊断和治疗具有重要作用。

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