Dominant-negative growth hormone receptor mutations: Genetics and clinical consequences
Readdiscussion on the genetics and clinical consequences of dominant-negative growth hormone receptor alterations.
Congenital hypothyroidism guidelines: has anything changed?
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?
Why is the growth plate the most important organ for childhood growth: how can it be investigated for clinical diagnosis?
Personalised medicine for hypophosphataemic rickets – a new era
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.
Identification of GH insensitivity among short children with normal GH secretion
The evaluation of children presenting with short stature includes detailed clinical, phenotypic, auxological and biochemical assessments with genetic analyses in selected cases.
Changes in the timing of puberty: clinically significant, genetic or environmental?
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.
Idiopathic short stature is not a diagnosis: A strategy is needed to identify the true pathogenesis in cases of unexplained short stature
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.
Supporting families of paediatric patients with adrenal disease
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.
Medical management of congenital adrenal hyperplasia: can conventional therapy be replaced by novel treatments?
Congenital adrenal hyperplasia is a disorder of decreased cortisol production coupled with an increase in androgens from a compensatory adrenocorticotropic hormone drive.
Increasing global incidence of central precocious puberty
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.
