Expert reviews

In our latest expert review, Afiya Andrews outlines the broad phenotypic spectrum of classical and non-classical growth hormone insensitivity disorders in children.

Find out more about this group of rare autosomal recessive conditions affecting the adrenal cortex called Congenital adrenal hyperplasia (CAH).

Find out more about the rare genetic causes of paediatric adrenal insufficiency and how best to treat affected children.

Read the discussion on the genetics and clinical consequences of dominant-negative growth hormone receptor alterations.

Congenital hypothyroidism guidelines: has anything changed?

Why is the growth plate the most important organ for childhood growth: how can it be investigated for clinical diagnosis?

Rickets results from impaired mineralisation of the growth plate. Hypophosphataemia is common to all forms of rickets as hypophosphataemia impairs both hydroxyapatite formation and failure of apoptosis of the hypertrophied chondrocytes.

The evaluation of children presenting with short stature includes detailed clinical, phenotypic, auxological and biochemical assessments with genetic analyses in selected cases.

Amongst healthy adolescents, there is a near-normal distribution of the timing of puberty, with the mean age of onset in boys being 11.5 years and in girls 11 years, but wide inter-individual variation.

The designation “Idiopathic short stature” was first used in the 1980s as a description for short children who had normal growth hormone secretion and otherwise unexplained short stature.