Article
Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.
Human genomics - 16 Feb 2017
Ayers Katie L, Bouty Aurore, Robevska Gorjana, van den Bergen Jocelyn A, Juniarto Achmad Zulfa, Listyasari Nurin Aisyiyah, Sinclair Andrew H, Faradz Sultana M H
Abstract excerpt
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...
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