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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.
A whole-exome sequencing study has identified novel genes involved in the development of spontaneous congenital hypopituitarism in a large group of unrelated children from Argentina.
Vosoritide treatment appears to increase growth velocity in children with hypochondroplasia and is well tolerated, show study findings

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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.
A whole-exome sequencing study has identified novel genes involved in the development of spontaneous congenital hypopituitarism in a large group of unrelated children from Argentina.
Phase 2 trial results support use of the melanocortin-4 receptor agonist setmelanotide for the treatment of rapid excess weight gain and hunger in patients with hypothalamic obesity.
Vosoritide treatment appears to increase growth velocity in children with hypochondroplasia and is well tolerated, show study findings
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.
The majority of sporadic medullary thyroid cancer cases in children may be positive for RET mutations that are potentially amenable to treatment with a targeted agent, suggests research published in the Journal of Clinical Endocrinology & Metabolism.
Children and adolescents with congenital adrenal hyperplasia appear to have impaired psychosocial quality of life, particularly in the school domain, while physical QoL is preserved, suggest findings of a systematic review and meta-analysis.
Children and adolescents with congenital adrenal hyperplasia appear to have impaired psychosocial quality of life, particularly in the school domain, while physical QoL is preserved, suggest findings of a systematic review and meta-analysis.
Primary care electronic health record codes for rickets, genu varum or low levels of phosphate could help flag a potential diagnosis of X-linked hypophosphataemia, suggest study findings published in the Journal of Clinical Endocrinology & Metabolism.
Patients with adamantinomatous craniopharyngioma can be grouped into two distinct clusters based on their DNA methylation profile, Brazilian researchers report.
Martin Savage
Programme Director
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