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When marked elevation in PBG establishes a diagnosis of AHP, more extensive second line biochemical and/or genetic testing should be done to differentiate these conditions

2 Physiology of normal growth Short stature in children is defined as a height standard deviation score (SDS) lower than - 2 SD, more than 2 SD below a populations mean for age and sex ( 2.1 GH-IGF-1 axis Regular GH-IGF-1 secretion and functions are fundamental for pre and postnatal growth ( Pituitary GH is encoded by the GH1 gene, and it is secreted in pulsatile manner in the circulation ( Figure 1 )

The arm is internally rotated and the humerus is loaded posteriorly

Combination therapy with both XO inhibitors and uricosuric agents is advised when monotherapy proves ineffective