• PMID: 21292259
• Gene Name: GNRHR
• Condition: Delayed puberty
• Association: 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
• Mutation: (Phe309del) in GNRHR
• Population size: 146
• Population details: 146 with constitutional delay of growth and puberty
• Sex: Male
• Infertility type: Male infertility
• Associated genes: FGFR1, GNRHR, TAC3, and TACR3
• Other associated phenotypes: Delayed puberty

The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty

Vaaralahti K, Wehkalampi K, Tommiska J, Laitinen EM, Dunkel L, Raivio T.

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. CI - Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Vaaralahti, Kirsi AU - Vaaralahti K AD - Institute of Biomedicine, Department of Physiology, University of Helsinki, Helsinki, Finland. FAU - Wehkalampi, Karoliina AU - Wehkalampi K FAU - Tommiska, Johanna AU - Tommiska J FAU - Laitinen, Eeva-Maria AU - Laitinen EM FAU - Dunkel, Leo AU - Dunkel L