Congenital hypogonadotropic hypogonadism without/with anosmia 5 is an autosomal dominant disorder caused by mutations of the CHD7 gene. Sexual maturation is typically disturbed and associated with low levels of gonadotropin and testosterone. Anosmia can be present and makes it difficult to distinguish from Kallmann syndrome then.
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Kim HG et al. (2008) Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. |
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Raivio T et al. (2007) Reversal of idiopathic hypogonadotropic hypogonadism. |
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OMIM.ORG article Omim 612370 |