title: The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.
abstract: Variation in FGFR1, GNRHR, TAC3, and TACR3 was evaluated in 146 Finnish subjects with constitutional delay of growth and puberty. Although one male subject carried a previously undescribed heterozygous deletion (Phe309del) in GNRHR, which segregated with delayed puberty in his family, mutations in the coding regions of FGFR1, GNRHR, TAC3, and TACR3 are not likely to underlie common constitutional delay of growth and puberty.
authors.affiliation: Institute of Biomedicine, Department of Physiology, University of Helsinki, Helsinki, Finland.
authors.forename: Kirsi
authors.initials: K
authors.lastname: Vaaralahti
authors.forename: Karoliina
authors.initials: K
authors.lastname: Wehkalampi
authors.forename: Johanna
authors.initials: J
authors.lastname: Tommiska
authors.forename: Eeva-Maria
authors.initials: EM
authors.lastname: Laitinen
authors.forename: Leo
authors.initials: L
authors.lastname: Dunkel
authors.forename: Taneli
authors.initials: T
authors.lastname: Raivio
mesh_terms: D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D005387:Finland; D020022:Genetic Predisposition to Disease; D006130:Growth Disorders / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D015287:Neurokinin B / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011628:Puberty, Delayed / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics; D011966:Receptors, LHRH / Q000235:genetics; D018042:Receptors, Neurokinin-3 / Q000235:genetics; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: C484844:GNRHR protein, human; D011966:Receptors, LHRH; D018042:Receptors, Neurokinin-3; D015287:Neurokinin B; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1