Genes involved in the neuroendocrine control of normal puberty and abnormal puberty of central origin

Christian L. Roth, Sergio R. Ojeda

    Research output: Contribution to journalReview article

    8 Scopus citations


    There is now compelling evidence that both normal puberty and disturbed pubertal development of central origin are, to a significant extent, determined by genetic factors. Although delayed sexual development can result from a deficient pituitary responsiveness to GnRH caused by mutations in the GnRH receptor gene, until recently the only genetically determined hypothalamic defects known to affect puberty were those caused by mutations in genes required for the migration of gonadotropin releasing hormone (GnRH) neurons, such as KAL1, FGFR1, and NELF. Recently, mutations in a gene termed GPR54 were identified as causing isolated hypogonadotrophic hypogonadism (IHH), due to a functional, instead of a structural hypothalamic defect. Studies in nonhuman primates and rodent models suggest that the functional integrity of the hypothalamic mechanism controlling puberty requires a gene network that includes GPR54. Altogether, these findings indicate that the genetic underpinnings of disturbed pubertal development of central origin are polygenic, rather than specified by a single gene.

    Original languageEnglish (US)
    Pages (from-to)67-76
    Number of pages10
    JournalPediatric Endocrinology Reviews
    Issue number2
    StatePublished - Dec 1 2005



    • Disturbed onset of puberty
    • Genes
    • Glial-neuronal communication
    • GnRH neurons
    • Hypogonadism
    • Hypothalamus
    • Neuronal migration

    ASJC Scopus subject areas

    • Pediatrics, Perinatology, and Child Health
    • Endocrinology, Diabetes and Metabolism

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