Article
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
European journal of endocrinology - 1 May 2010
Brioude Frédéric, Bouligand Jérôme, Trabado Séverine, Francou Bruno, Salenave Sylvie, Kamenicky Peter, Brailly-Tabard Sylvie, Chanson Philippe, Guiochon-Mantel Anne, Young Jacques
Abstract excerpt
Congenital hypogonadotropic hypogonadism (CHH) results from abnormal gonadotropin secretion, and it is characterized by impaired pubertal development. CHH is caused by defective GNRH release, or by a gonadotrope cell dysfunction in the pituitary. Identification of genetic abnormalities related to CHH has provided major insights into the pathways critical for the development, maturation, and function of the...
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