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

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    Author
    Ayers, KL; Bouty, A; Robevska, G; van den Bergen, JA; Juniarto, AZ; Listyasari, NA; Sinclair, AH; Faradz, SMH
    Date
    2017-02-16
    Source Title
    Human Genomics
    Publisher
    BIOMED CENTRAL LTD
    University of Melbourne Author/s
    Sinclair, Andrew; Ayers, Katie
    Affiliation
    Paediatrics (RCH)
    Metadata
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    Document Type
    Journal Article
    Citations
    Ayers, 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 Status
    Open Access
    URI
    http://hdl.handle.net/11343/258140
    DOI
    10.1186/s40246-017-0098-2
    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 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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