Delayed puberty

Delayed puberty is defined as the lack of any pubertal signs by the age of 13 years in girls and 14 years in boys.  It affects approximately 2% of adolescents and is more common in boys.  Most patients seek medical assistance because of slow growth rather than slow pubertal development. 

The causes of delayed puberty can be divided into central and peripheral.

• Central causes – there is nothing wrong with the testes or ovaries but there is no signal from the pituitary to stimulate them to produce oestrogen and testosterone

Functional impairment (i.e. intact hypothalamic pituitary axis)

• Most patients presenting with pubertal delay have a temporary functional delay that resolves with time. 
  • The most common cause is constitutional delay which tends to run in families. 
  • Functional delay may also occur due to chronic illness, excessive physical exercise, malnutrition and eating disorders and prolonged stress.

Permanent impairment / hypogonadotropic hypogonadism (i.e. impaired hypothalamic pituitary axis)

• Idiopathic, developmental abnormalities of HP axis, trauma, tumours etc.

• Peripheral causes – the pituitary is producing LH and FSH but there is an impairment of  the testes or ovaries which results in them not being  able to produce oestrogen or testosterone

Hypergonadotrophic hypogonadism

• Congenital disorders e.g. cryptorchidism
  • Chromosomal disorders e.g. Klinefelters, Turners
  • Acquired e.g. testicular torsion, chemotherapy, infections, testicular or ovarian surgery

History

• Is pubertal development absent, slow or arrested?
• Assess the stage of puberty

RCPCH – The three phases of puberty assessed by history

• Past medical history
  • Any chronic medical condition can lead to delayed puberty
  • Abnormal eating patterns or recent weight loss, intense exercise plans
  • Surgery or radiotherapy to the brain (causing gonadotrophin deficiency) or abdomen and pelvis (gonadal damage)
  • Viral infections e.g. mumps
  • Testicular pain/torsion
  • Symptoms suggestive of other hormone deficits
  • Lack of smell
• Family history
  • Parents growth and puberty patterns
• Social details
  • Psychological impact of delayed puberty on young person

Examination

• Pubertal staging
  • Assess by Tanner Staging if appropriate, however most screening information can come from the history (see above)
• Height and Weight
  • Growth spurt occurs in mid-late puberty in boys and stage 3 breast development in girls
  • Short stature may be particularly important in girls
• Other
  • Dysmorphic features
  • Signs of chronic illness

Arrested puberty i.e. puberty begins but fails to progress adequately.

• Examination including documented Tanner staging
• Bloods to assess for chronic disease (FBC, U+E, LFT, TFTs, coeliac)
• Baseline FSH and LH measurements can be helpful to distinguish between hypogonadotropic hypogonadism and hyper gonadotrophic hypogonadism
• Bone age x-ray (request x ray for bone age which will be an x ray of hand and wrist of the left hand)
• Further dynamic tests may be carried out in hospital.

Young people with delayed puberty should be referred to general paediatric outpatients for further assessment via ERS.  They are likely to be seen by a general paediatrician initially with support from endocrinology if required. 

Those children with arrested puberty should be referred urgently into our Rapid Access Clinics – this is currently via ERS marked urgent.  If advice is required prior to referral then a paediatric consultant can be contacted via Advice & Guidance on ERS.

Delayed Puberty Patient Information Leaflet