aetiology of precocious puberty - summary of central and peripheral causes

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Precocious puberty is commonly defined as puberty that starts before age 8 in girls and 9 in boys (1)

The aetiology of precocious puberty can be considered in terms of:

  • as a result from early commencement of pulsatile secretion of gonadotrophin releasing hormone (GnRH) (gonadotrophin dependent precocious puberty or GDPP)
    • also known as "true" precocious puberty or central precocious puberty(CPP) (2) (i.e. all the phases of puberty occur - but just occur at an earlier stage than "normal" puberty)
      • idiopathic GDPP
        • this is commonest cause of precocious puberty
        • (1,2,3,4)
        • may be a family history of precocious puberty
      • CNS related causes of GDPP
      • include
        • tumours involving the hypothalamus (eg, hamartoma or glioma)
          • the most common brain lesion causing CPP is hypothalamic hamartoma (5)
        • malformations of hypothalamus
        • germinomas
          • a type of germ cell tumor that is most often found in the brain. Typically, germ cells migrate to the reproductive organs (female ovaries or male testes) during fetal development. However, if these germ cells don't migrate to the correct location, they can become trapped in the brain and multiply in areas where they should not
        • other space occupying lesions
        • congenital brain disorder
        • acquired injury or infection
      • Genetic syndromes - neurofibromatosis type 1 and Sturge-Weber and tuberous sclerosis have characteristic manifestations and are associated with GDPP


  • those related to increased sex steroid production, independent of GnRH (gonadotrophin independent precocious puberty or GIPP)
  • - also known as peripheral precocious puberty or precocious pseudopuberty because the presence of sex steroids is independent of pituitary gonadotropin release

    • virilising tumours
    • such as either:
      • androgen producing ovarian or adrenal tumours
      • testicular Leydig cell tumours
      • - (male limited)
      • testotoxicosis (male limited with premature Leydig and germ cell maturation)
      • human chorionic gonadotrophin producing tumours
    • congenital adrenal hyperplasia
      • results in increased androgen production
      • may have virilising effects in both boys and girls
    • McCune Albright syndrome
      • GIPP results from hormonal secretions of autonomous ovarian cysts
        • affected tissues in patients with McCune-Albright syndrome have a mutation of the G3a subunit of the G3 protein that activates adenylate cyclase
          • this activating mutation leads to continued stimulation of endocrine function, eg, precocious puberty
      • associated with café au lait skin lesions
      • a genetic mosaicism (ie, non-inheritable)

Reference:

Last edited 01/2020 and last reviewed 01/2020

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