TY - JOUR AU - Ayers, Katie L. AU - Bouty, Aurore AU - Robevska, Gorjana AU - van den Bergen, Jocelyn A. AU - Juniarto, Achmad Zulfa AU - Listyasari, Nurin Aisyiyah AU - Sinclair, Andrew H. AU - Faradz, Sultana M. H. PY - 2017 DA - 2017/02/16 TI - Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys JO - Human Genomics SP - 1 VL - 11 IS - 1 AB - 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. SN - 1479-7364 UR - https://doi.org/10.1186/s40246-017-0098-2 DO - 10.1186/s40246-017-0098-2 ID - Ayers2017 ER -