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. 1995 Jul;32(7):553–554. doi: 10.1136/jmg.32.7.553

Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis).

N Kawate 1, G B Kletter 1, B E Wilson 1, M L Netzloff 1, K M Menon 1
PMCID: PMC1050550  PMID: 7562970

Abstract

A family of male limited gonadotrophin independent precocious puberty was examined for activating mutation of the LH receptor. A transition of A to G in nucleotide 1733 of the human LH receptor gene was identified in all affected males and in an unaffected carrier female. The mutation was shown by identifying a new restriction site created by the mutation. This mutation appears to be a common feature of the disorder, as it has been reported previously in unrelated families. Therefore, the presence of this new restriction site can serve as a diagnostic tool in males at risk before the onset of symptoms, as well as identifying carrier females.

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Selected References

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