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GENATLAS PHENOTYPE

last update : 27-11-2013

Symbol	HHG
Location	Xp21.2
Name	hypogonadotropic hypogonadism
Other name(s)	gonadotrophin deficiency
Corresponding gene	NR0B1
Other symbol(s)	HH, GTD
Main clinical features	congenital adrenal hypoplasia with hypogonadotropic hypogonadism, sexual infantilism and skeletal immaturity, confirmed by low levels of plasma testosterone and inadequate pituitary reserve of gonadotrophin
Genetic determination	sex linked
Function/system disorder	endocrinology
Type	disease

Gene product

Name	nuclear receptor subfamily 0, group B, member 1 (NR0B1), mutation

Remark(s)