Expert reviews

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.

While adrenal disease in children is quite rare, healthcare professionals today working in paediatric endocrinology departments are experts in managing the care of children with adrenal disease.

Congenital adrenal hyperplasia is a disorder of decreased cortisol production coupled with an increase in androgens from a compensatory adrenocorticotropic hormone drive.

Precocious puberty is a prevalent endocrine disorder that affects children globally. Classically, precocious puberty is defined as the development of secondary sexual characteristics before age 8 years in girls and 9 years in boys and it has a clear female predominance.

Noonan syndrome is a relatively common autosomal dominant disorder characterised by facial dysmorphism, short stature, chest deformities and congenital heart defects.