aetiology

Last reviewed 01/2018

True precocious puberty is idiopathic in 90% of female cases, and in 50 to 60% of male cases.

• true precocious puberty (characterized by breast and pubic hair development in girls, or testicular enlargement in boys) occurs in approximately 1 in 5000 children and is five to six times more common in girls than boys
  • in most affected girls (80-90%), but in only half of the affected boys, precocious puberty is gonadotropin-dependent and idiopathic in nature

In other cases the investigator would tend to look for a central cause, including:

• central nervous system tumors or lesions
  • CNS lesions may be hamartomas, pineal, dysgerminomas, and neurofibromatosis
  • note that tumours of the pituitary gland do not as a rule cause precocious puberty; instead they are more likely to result in deficiency states

Other possible associations include:

• cerebral palsy
• recurrent seizure disorders
• after meningitis or encephalitis
• after head trauma or radiation injury
• internal hydrocephalus

Notes:

• less commonly precocious puberty is gonadotropin independent and may include testotoxicosis (male limited with premature Leydig and germ cell maturation), gonadal, or adrenal steroid-producing tumors, and McCune-Albright syndrome.
  • McCune Allbright syndrome
• 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
• central nervous system tumors or lesions are much more common in boys

Reference:

• (1) Saenger P, Rincon M.Precocious puberty: McCune-Albright syndrome and beyond.J Pediatr. 2003 Jul;143(1):9-10.