title: [Mutations causing puberty disturbances in girls].
abstract: A survey of literature has been presented relating to the disturbance of girls puberty in presence of gene mutations in membrane GnRH receptors and gonadotropins receptors as well as point mutations in the gonadotropins. The paper also presents the role of mutations in genes involving in steroid hormones production in girls ovaries and adrenal cortex and in the mother placenta. Furthermore also data concern the mutations indirectly influences on the mechanism of puberty as galactosemia or activating in gene G-alpha in absence interaction between gonadotropins and their receptors were presented.
authors.affiliation: Kliniki Ginekologii Operacyjnej II Katedry Połoznictwa i Chorób Kobiecych Akademii Medycznej w Lublinie.
authors.forename: J A
authors.initials: JA
authors.lastname: Jakowicki
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006058:Gonadal Disorders / Q000235:genetics*; D006801:Humans; D009154:Mutation; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011967:Receptors, Gonadotropin / Q000235:genetics; D011966:Receptors, LHRH / Q000235:genetics
chemical_list: D011967:Receptors, Gonadotropin; D011966:Receptors, LHRH