Aetiology of precocious puberty - summary of central and peripheral causes

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) include
    • idiopathic GDPP (1,2,3,4)
      • this is commonest cause of precocious puberty
      • may be a family history of precocious puberty
    • CNS related causes of GDPP
      • 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)

peripheral precocious pubertyprecocious pseudopuberty

Reference:

• Muir A.Precocious puberty. Pediatr Rev 2006;27:373-81.
• Saenger P, Rincon M.Precocious puberty: McCune-Albright syndrome and beyond.J Pediatr. 2003 Jul;143(1):9-10.
• Bradley S et al. Precocious puberty. BMJ. 2020 Jan 13;368:l6597
• Kaplowitz P. Evaluation and Referral of Children With Signs of Early Puberty. Pediatrics 2016 Jan;137(1). doi: 10.1542/peds.2015-3732.
• Kota AS, Ejaz S. Precocious Puberty. StatPearls November 2018.