Review
Research progress of Kallmann syndrome
Duan Mengting, Li Ruizhen, Wang Xi
Published 2020-10-26
Cite as Int J Pediatr, 2020, 47(10): 713-717. DOI: 10.3760/cma.j.issn.1673-4408.2020.10.009
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.
Key words:
Kallmann syndrome; Idiopathic hypogonadotropic hypogonadism; Congenital hypogonadotropic hypogonadism; Smell
Contributor Information
Duan Mengting
Department of Pediatrics, School of Medicine, Jianghan University, Wuhan 430056, China
Department of Child Healthcare, Wuhan Children`s Hospital Affiliated to TongJi Medical College of Huazhong University of Science and Technology, Wuhan 430016, China
Li Ruizhen
Department of Child Healthcare, Wuhan Children`s Hospital Affiliated to TongJi Medical College of Huazhong University of Science and Technology, Wuhan 430016, China
Wang Xi
Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China