referral criteria from primary care - precocious puberty

Last edited 01/2020

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

GPs should have a low threshold for specialist referral in cases of suspected precocious puberty (2) - so if precocious puberty is suspected then this requires prompt referral for specialist review.

Red flags for urgent referral of suspected precocious puberty have been detailed (2) - these are not stated as necessary prerequisites for specialist referral; but are presentations/contexts which emphasise need for urgent specialist referrral. If precocious puberty is suspected (red flags present or not) then this is an indication for GP referral for specialist review:

Red Flags for Urgent Specialist Review (2,3,4)
  • precocious puberty in boys (penile growth and/or testicular enlargement before age 9)
    • precocious puberty in boys represents a substantial risk of underlying pathology
    • - this scenario requires urgent referral to a paediatric endocrinologist

  • clitoromegaly in a girl - could suggest gonadotrophin releasing hormone (GnRH) independent precocious puberty or GIPP - such congenital adrenal hyperplasia

  • menarche before the age of 8 years
    • an indicator for prompt specialist referral and review
    • note that also important to consider other possible causes for vaginal bleeding

  • progressive breast enlargement before age 8
    • over a 4- to 6- month period (2,3)
    • also with upward crossing of height centile(s)

  • rapid change in growth centile gradient may be coincident with other features of precocious puberty
    • steep upward trend in growth centiles could suggest gonadotrophin releasing hormone (GnRH) (gonadotrophin dependent precocious puberty or GDPP) resulting from cranial pathology e.g. below 25th to above 50th centile, in 3-6 months

  • possible pituitary/hypothalamic pathology may be indicated by precocious pubertal development alongside new onset polydipsia/polyuria
    • exclude new onset diabetes mellitus
    • urinary symptomatology may present as enuresis/possible UTI

  • intracranial pathology - may be indicated by features of precocious puberty plus the presence of headaches, visual disturbances, or signs of raised intracranial pressure

  • café au lait macules can be associated with neurofibromatosis type I (a cause of GDPP) or McCune-Albright syndrome (a cause of GIPP)

  • in infancy - presence of pubic hair (with or without breast development) is a red flag for specialist referral

  • GDPP can be associated with previous central nervous system disorders or injury
      • meningitis, central nervous system trauma, cranial irradiation, hypoxic-ischaemic injury
      • neurofibromatosis
    • features of precocious puberty with a history of any of these conditions stated should suggest the possibility of GDPP and need for specialist review
 
A review states that (3):
  • although there is a chance of finding pathology in girls with signs of puberty before 8 years of age and in boys before 9 years of age, the vast majority of these children with signs of apparent puberty have variations of normal growth and physical development and do not require laboratory testing, bone age radiographs, or intervention
  • the most common of these signs of early puberty are premature adrenarche (early onset of pubic hair and/or body odor), premature thelarche (nonprogressive breast development, usually occurring before 2 years of age), and lipomastia, in which girls have apparent breast development which, on careful palpation, is determined
    to be adipose tissue
  • indicators that the signs of sexual maturation may represent true, central precocious puberty (GDPP) include progressive breast development over a 4- to 6-month period of observation or progressive penis and testicular enlargement, especially if accompanied by rapid linear growth

Notes:

  • many cases of precocious puberty in girls over 6 have benign causes - however precocious puberty can indicate serious pathology in some cases
  • " Idiopathic" precocious puberty is the commonest cause of GDPP and is more commonly seen in girls than boys

Reference: