Article
Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism.
Archives of medical research - 1 Jan 2000
Kottler M L, Counis R, Bouchard P
Abstract excerpt
Mutations in a few genes have been identified in hypogonadotropic hypogonadism (HH): the gene KAL-1 is involved in X-linked Kallmann syndrome associated with anosmia and mutations in transcription factors, namely, DAX-1 and Prop-1 were also evidenced when associated with other pituitary or endocrine defects. Recently, compound heterozygote mutations in the GnRH receptor gene were described both in males and...
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