Congenital hypogonadotropic hypogonadism without/with anosmia 1 is an autosomal dominant disorder caused by mutations of the KAL1 (ANOS1) gene. Sexual maturation is typically disturbed and associated with low levels of gonadotropin and testosterone. Anosmia can be present and is called Kallmann syndrome then.
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OMIM.ORG article Omim 308700 |