Article
Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene.
Hormones (Athens, Greece) - 1 Jan 2000
Entrala-Bernal Carmen, Montes-Castillo Cristina, Alvarez-Cubero Maria Jesus, Gutiérrez-Alcántara Carmen, Fernandez-Rosado Francisco, Martinez-Espίn Esther, Sánchez-Malo Carolina, Santiago-Fernández Piedad
Abstract excerpt
Kallmann Syndrome (KS) is a genetic disease of embryonic development which is characterized by the association of hypogonadotropic hypogonadism (HH) due to a deficit of the gonadotropin-releasing hormone (GnRH) and a hypo/anosmia (including a hypoplasia of the nasal sulcus and agenesis of the olfactory bulbs). Even though it is a genotypically and phenotypically heterogeneous clinical disease, there are some key...
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