" /> Hypogonadotropic Hypogonadism with Anosmia - CISMeF





Preferred Label : Hypogonadotropic Hypogonadism with Anosmia;

NCIt synonyms : Kallmann Syndrome;

NCIt definition : An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia.;

Alternative definition : NICHD: An X-linked or autosomal dominant syndrome due to mutation(s) in a number of genes, including FGFR1 (encoding fibroblast growth factor receptor 1), KAL1 (encoding anosmin-1), PROKR2 (encoding prokineticin receptor-2), CDH7 (encoding chromodomain helicase DNA binding protein 7), and FGF8 (encoding fibroblast growth factor 8). This condition is characterized by an impaired sense of smell and a deficiency of gonadotropin-releasing hormone, resulting in hypogonadotropic hypogonadism. Additional features may include cleft lip or palate, unilateral kidney dysgenesis, and synkinesia.;

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30/07/2025


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