Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.

ABSTRACT:

Background

Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty. In rare cases, hypospadias may also be present.

Results

Here, we describe genetic mutational analysis of CHH genes in Indonesian 46,XY disorder of sex development patients with unde

SUBMITTER: Ayers KL 

PROVIDER: S-EPMC5314676 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature