definitionCongenital and familial disorder characterized by hypogonadotropic hypogonadism, eunuchoidal features, and anosmia or hyposmia. It is caused by a defect in the synthesis and/or release of LHRH (luteinising hormone-releasing hormone; GONADORELIN) from the hypothalamus as a result of faulty embryonic neuronal migration. The gene responsible for this is found in the region Xp22.3 on the short arm of the X chromosome. There is a homolog on the Y chromosome. The syndrome is more prevalent in males by a ratio of three to one. |
synonymsHypogonadism, Hypogonadotropic |
UMLSAnosmia eunuchoidism, Dysplasia olfactogenitalis of de Morsier, Dysplasia, olfactogenital, Gonadotrophin defic + anosmia, Gonadotrophin deficiency with anosmia, Hypogonadism, hypogonadotropic with anosmia, HYPOGONADISM, HYPOGONADOTROPIC, WITH ANOSMIA, Hypogonadotropic hypogonadism, Kallman syndrome, Kallmann Syndrome, Kallmanns Syndrome, Kallmann's Syndrome, Kallman's syndrome, Olfactogenital dysplasia, Syndrome, Kallmann, Syndrome, Kallmann's |
Images | | 3 images found for this diagnose |
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