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

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• 作者：Katie L. Ayers ; Aurore Bouty ; Gorjana Robevska ; Jocelyn A. van den Bergen…
• 关键词：Congenital hypogonadotrophic hypogonadism ; Under ; virilisation ; Hypospadias ; Targeted gene sequencing ; Disorder of sex development
• 刊名：Human Genomics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：11
• 期：1
• 全文大小：977KB
• 刊物主题：Human Genetics; Proteomics; Bioinformatics;
• 出版者：BioMed Central
• ISSN：1479-7364
• 卷排序：11

文摘

BackgroundCongenital 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.