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GENATLAS PHENOTYPE
last update : 08-03-2010
Symbol PPML
Location 2p16.3
Name precocious puberty, male-limited
Other name(s)
  • sexual precocity, familial, gonadotropin-independent
  • testotoxicosis, familial
    • Corresponding gene LHCGR
    Main clinical features
  • sporadic male gonadotropin independent precocious puberty, familial testotoxicosis (LHCGR constitutive expression)
    • Genetic determination autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name LH receptor (LHCGR)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function mostly in the TM helix 6
    Remark(s)
  • activating mutations, most commonly (D578G)
  • exon 11 could be more susceptible to mutation than the other 10 exons together and activation of LHCGR, contingent to the somatic silencing of neighbouring ALF, could be linked to male-limited precocious puberty and pre-eclampsia (Chambers 2005)