Article
KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.
Molecular human reproduction - 1 Mar 2007
Bhagavath Balasubramanian, Xu Ning, Ozata Metin, Rosenfield Robert L, Bick David P, Sherins Richard J, Layman Lawrence C
Abstract excerpt
Hypogonadotrophic hypogonadism results in the absence of puberty and if left untreated leads to infertility. Mutations in KAL1 are known to account for some of the cases of Kallmann syndrome. The aim of this study was to determine the prevalence of KAL1 mutations in a large number of patients with idiopathic hypogonadotrophic hypogonadism (IHH). One hundred and thirty eight patients (109 males and 29 females)...
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