Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46, XY under-virilised boys
AuthorAyers, KL; Bouty, A; Robevska, G; van den Bergen, JA; Juniarto, AZ; Listyasari, NA; Sinclair, AH; Faradz, SMH
Source TitleHuman Genomics
PublisherBIOMED CENTRAL LTD
Document TypeJournal Article
CitationsAyers, K. L., Bouty, A., Robevska, G., van den Bergen, J. A., Juniarto, A. Z., Listyasari, N. A., Sinclair, A. H. & Faradz, S. M. H. (2017). Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46, XY under-virilised boys. HUMAN GENOMICS, 11 (1), https://doi.org/10.1186/s40246-017-0098-2.
Access StatusOpen Access
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 under-virilisation. We present 11 male patients with varying degrees of under-virilisation who have rare variants in known CHH genes. Interestingly, many of these patients had hypospadias. CONCLUSIONS: We postulate that variants in CHH genes, in particular PROKR2, PROK2, WDR11 and FGFR1 with CHD7, may contribute to under-virilisation phenotypes including hypospadias in Indonesia.
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