[Vigorously promote the research on diagnosis, treatment and genetic counseling of children with congenital hypogonadotropic hypogonadism]

C X Gong; X P Luo

doi:10.3760/cma.j.cn112140-20230411-00262

[Vigorously promote the research on diagnosis, treatment and genetic counseling of children with congenital hypogonadotropic hypogonadism]

Zhonghua Er Ke Za Zhi. 2023 Jun 2;61(6):481-483. doi: 10.3760/cma.j.cn112140-20230411-00262.

[Article in Chinese]

Authors

C X Gong¹, X P Luo²

Affiliations

¹ Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, MOE Key Laboratory of Major Diseases in Children, Beijing Key Laboratory for Genetics of Birth Defects, Beijing 100045, China.
² Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

PMID: 37312456
DOI: 10.3760/cma.j.cn112140-20230411-00262

Abstract

先天性低促性腺激素性性腺功能减退症（CHH）是罕见的影响青春期发育和成年期生育的疾病。述评通过儿童期开展CHH诊治的意义、面临的困难、遗传学研究助力儿童CHH诊断及未来的研究方向4个方面呼吁从事儿童性腺疾病诊疗的医师进行更多和深入的大型临床研究以获得更多证据，为减少性腺疾病对患儿心理、骨代谢及成年期心血管风险等的影响，为成年期生育力提升提供更多保障，为家庭避免再发生此类疾病提供背景知识。.

MeSH terms

Child
Genetic Counseling*
Humans
Hypogonadism* / diagnosis
Hypogonadism* / drug therapy
Hypogonadism* / genetics