ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.

ABSTRACT:

Objectives

Congenital hypogonadotropic hypogonadism (CHH) is a rare congenital gonadal dysplasia caused by defects in the synthesis, secretion or signal transduction of hypothalamic gonadotropin releasing hormone. The main manifestations of CHH are delayed or lack puberty, low levels of sex hormones and gonadotropins, and may be accompanied with other clinical phenotypes. Some patients with CHH are also accompanied with anosmia or hyposmia, which is called Kalman syndrome (KS). ANOS1, located on X chromosome, is the first gene associated with CHH in an X-linked recessive manner. This study aims to provide a basis for the genetic diagnosis of CHH by analyzing the gene variant spectrum of ANOS1 in CHH and the relationship between clinical phenotype and genotype.

Meth

SUBMITTER: Zeng W 

PROVIDER: S-EPMC10930292 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature