Article
GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.
PloS one - 1 Jan 2017
Hietamäki Johanna, Hero Matti, Holopainen Elina, Känsäkoski Johanna, Vaaralahti Kirsi, Iivonen Anna-Pauliina, Miettinen Päivi J, Raivio Taneli
Abstract excerpt
Biallelic, partial loss-of-function mutations in GNRHR cause a wide spectrum of reproductive phenotypes from constitutional delay of growth and puberty to complete congenital hypogonadotropic hypogonadism. We studied the frequency of GNRHR, FGFR1, TAC3, and TACR3 mutations in nine adolescent and young adult females with clinical cues consistent with partial gonadotropin deficiency (stalled puberty, unexplained...
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