assessment and investigation

Last reviewed 08/2021

Detailed assessment and investigations are undertaken by a paediatric specialist.

Assessment should include:

• detailed history of symptoms for chronic illness, symptoms suggestive of other hormone deficiency or excess, medications, previous treatment or surgery, abnormal eating patterns and a history of the family including parental heights and age at onset of puberty
• examination should include:
  • details of present and past heights and weights with pubertal staging
  • testicular size should be asessed using the Prader orchidometer in males
  • careful neurological examination should be undertaken to include visual field deficits, sense of smell and fundoscopy. Anosmia is suggestive of Kallman’s syndrome
  • careful documentation for body disproportion with estimation of upper and lower body segments:
    • may suggest Klinefelter’s syndrome (prevalence 1:1500)
    • Turner’s syndrome (prevalence 1:2500 live female births) patients are short, webbing of the neck, have a low hairline, prominent ears, broad chest, and renal and cardiac abnormalities with streak gonads
    • presence of other dysmorphic features may reveal multisystem syndromes such as CHARGE association, Prader-Willi syndrome

Investigations may include:

• blood levels of LH, FSH, oestradiol-17 beta, testosterone, 17-hydroxyprogesterone
  • will help differentiate patients with hypo- and hypergonadotrophic hypogonadism
  • note however that serum gonadotrophin concentrations are low in all normal children prior to puberty and hence caution must be exercised in interpretation of low serum gonadotrophin concentrations especially below a bone age of 12 years (1)
• thyroid function tests, prolactin levels.
• X-ray of hand for bone age
  • to estimate skeletal age - based on skeletal age it is possible to calculate a predicted adult height range and its relation to the genetic potential (mid-parental height)
• CT scan or ultrasound scan of pituitary, hypothalamus, adrenals and ovaries
• pituitary fossa X-ray
• chromosomal analysis to exclude Turner’s syndrome in girls and Klinefelter’s syndrome in boys

Reference:

1. Prescriber (2004); 15(9):54-64.