Paediatrics: Delayed puberty: assessment

Delayed puberty: assessment

This is defined as the lack of initiation and progress of pubertal develop-ment > +2 SD later than the average age of onset of puberty for the pop-ulation. 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 func-tional causes of delayed puberty. Make careful enquiry about age at puber-ty 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 pre- and post-hCG (as indicator of functional testicular tissue).

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