Article
The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.
Fertility and sterility - 30 Jun 2011
Vaaralahti Kirsi, Wehkalampi Karoliina, Tommiska Johanna, Laitinen Eeva-Maria, Dunkel Leo, Raivio Taneli
Abstract excerpt
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...
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