Research progress of Kallmann syndrome
10.3760/cma.j.issn.1673-4408.2020.10.009
- VernacularTitle:Kallmann综合征研究进展
- Author:
Mengting DUAN
1
;
Ruizhen LI
;
Xi WANG
Author Information
1. 江汉大学医学院儿科学 430056；华中科技大学同济医学院附属武汉儿童医院儿童保健科 430016
- From:
International Journal of Pediatrics
2020;47(10):713-717
- CountryChina
- Language:Chinese
-
Abstract:
Kallmann syndrome is a rare genetic disease with genetic heterogeneity and phenotypic heterogeneity, and is one of the common types of congenital hypogonadotropic hypogonadism.The incidence rate of male is higher than that of female.The pathogenesis is associated with abnormal development and migration of gonadotropin-releasing hormone(GnRH)neurons during embryonic period.The main clinical features are hypogonadism and anosmia or hyposmia.It is difficult to make early diagnosis before puberty, and hormone detection in mini puberty is a window of opportunity for early diagnosis, and non-reproductive performance and gene detection are conducive to early detection of the disease.This article reviews the literature and summarizes the progress in etiology, diagnosis and early diagnosis, reversal and relapse, and treatment of Kallmann syndrome.
