Paediatrics: Delayed puberty - assessment

Delayed puberty: assessment

This is defined as the lack of initiation and progress of pubertal development > +2 SD later than the average age of onset of puberty for the population. In the UK, this is to >14yrs for females and >16yrs for males.

History

A detailed history should screen for the many possible physical and functional causes of delayed puberty. Make a careful enquiry about the age at puberty onset (including menarche in females) in other family members.

Examination

• Measure height, weight, head circumference.
• Puberty (Tanner) staging.
• Review previous growth records if available.
• Measure parents’ heights and calculate MPH and family height target.

Investigations

The following baseline screening tests should be carried out.

Blood

• LH and FSH levels.
• Sex hormone: oestrogen/testosterone.
• Karyotype (chromosomal abnormalities).
• Thyroid function tests.
• Routine biochemistry and inflammatory markers (e.g. CRP).

Radiological

• BA X-ray.
•  Pelvic US (ovarian morphology).
• Abdominal US (e.g. intra-abdominal testes).
• MRI scan brain.

 Tests

• hCG stimulation test (3- or 21-day test): measurement of testosterone- and post-hCG (as an indicator of functional testicular tissue).

GnRH (LHRH) test: measurement of basal and post-GnRH LH and FSH levels (an indicator of hypothalamic-pituitary function).