Researchers have identified novel pathogenic variants that may account for approximately 9% of children with Silver–Russell syndrome who have not previously had a molecular diagnosis and aid understanding of the relationships between genotype and phenotype.
A 12-year-old boy with a diagnosis of Carney Complex (CC) has accelerated growth. How does the endocrinologist manage this patient?
Italian researchers have determined a glucagon stimulation test threshold that can predict whether a teenager with growth hormone deficiency has or has not experienced normalisation of GH levels at the time of transition to adult care.
Dutch research indicates that health-related quality of life remains largely stable over the 12 years after completion of growth hormone therapy for short stature in children who were born small for gestational age.
Genetic testing can lead to a diagnosis in around three quarters of children with short stature from consanguineous families, suggests a study of Turkish patients.
Most transgender adolescents treated with a gonadotropin-releasing hormone (GnRH) agonist plus oestradiol or testosterone reach an adult height that is within 2 standard deviations of that expected for their sex assigned at birth, research shows.
Vosoritide may be given to children with achondroplasia aged under 60 months after phase 2 trial findings point to a tolerable adverse event profile and an increase in height Z score compared with placebo.
Exome sequencing and chromosomal microarray analysis are useful tools for the identification of genetic causes underlying short stature, indicate the results of a systematic review and meta-analysis.
Gonadotropin-releasing hormone agonist therapy in children with congenital adrenal hyperplasia does not compromise bone mineral density, US researchers say.
We are delighted to announce the upcoming Springer Healthcare IME Symposium, entitled Insights into MAnaging Growth for Endocrine Nurses (IMAGE). This meeting will take place on the 21–22 March 2024 at the Westminster Hotel and Spa, Nice, France.
