Article
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.
Human reproduction (Oxford, England) - 1 Feb 2003
Allen Linda A, Achermann John C, Pakarinen Pirjo, Kotlar Thomas J, Huhtaniemi Ilpo T, Jameson J Larry, Cheetham Tim D, Ball Stephen G
Abstract excerpt
BACKGROUND: Inactivating mutations of the FSH receptor (FSHR) are a rare cause of hypergonadotrophic hypogonadism in women. Only one patient with primary amenorrhoea due to an FSHR gene mutation has been reported outside of Finland, where the prevalence of Ala189Val mutations is particularly high. METHODS AND RESULTS: Here, we describe the clinical, molecular genetic and functional characteristics associated with...
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