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