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dc.contributor.authorAyers, KL
dc.contributor.authorBouty, A
dc.contributor.authorRobevska, G
dc.contributor.authorvan den Bergen, JA
dc.contributor.authorJuniarto, AZ
dc.contributor.authorListyasari, NA
dc.contributor.authorSinclair, AH
dc.contributor.authorFaradz, SMH
dc.date.accessioned2020-12-22T04:47:05Z
dc.date.available2020-12-22T04:47:05Z
dc.date.issued2017-02-16
dc.identifierpii: 10.1186/s40246-017-0098-2
dc.identifier.citationAyers, 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.
dc.identifier.issn1473-9542
dc.identifier.urihttp://hdl.handle.net/11343/258140
dc.description.abstractBACKGROUND: 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.
dc.languageEnglish
dc.publisherBIOMED CENTRAL LTD
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleVariants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46, XY under-virilised boys
dc.typeJournal Article
dc.identifier.doi10.1186/s40246-017-0098-2
melbourne.affiliation.departmentPaediatrics (RCH)
melbourne.source.titleHuman Genomics
melbourne.source.volume11
melbourne.source.issue1
dc.rights.licenseCC BY
melbourne.elementsid1183904
melbourne.contributor.authorSinclair, Andrew
melbourne.contributor.authorAyers, Katie
dc.identifier.eissn1479-7364
melbourne.accessrightsOpen Access


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