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GENATLAS PHENOTYPE
last update : 12-10-2022
Symbol HH23
Location 19q13.3
Name hypogonadotropic hypogonadism 23 with or without anosmia
Corresponding gene LHB
Main clinical features
  • male infantilism, male infertility in heterozygotes but normal sexual development and fertility in female heterozygotes
  • infertile eunuchoidism, hypogonadotropic hypogonadism
    • Genetic determination
    Related entries including male pseudohermaphroditism due to defective LH
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name luteinizing hormone, beta polypeptide (LHB)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     homozygous missense mutation Gly/36Asp
    Remark(s)