Genetic testing aids diagnosis for short stature children from consanguineous parents
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.
Whole-exome sequencing expands congenital hypopituitarism aetiology understanding
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.
Setmelanotide shows promise for the treatment of hypothalamic obesity
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 shows promise for treatment of hypochondroplasia
Vosoritide treatment appears to increase growth velocity in children with hypochondroplasia and is well tolerated, show study findings
GnRH analogue, sex steroids during puberty have minimal impact on trans adult height
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.
Sporadic medullary thyroid cancer in children linked to RET alterations
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.
Common genetic variants of pubertal timing differentially contribute to CDP, IHH
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.
Psychosocial, but not physical, QoL impaired in young patients with congenital adrenal hyperplasia
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.
Electronic health record codes for X-linked hypophosphataemia symptoms may help early diagnosis
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.
DNA methylation analysis reveals two patient clusters in adamantinomatous craniopharyngioma
Patients with adamantinomatous craniopharyngioma can be grouped into two distinct clusters based on their DNA methylation profile, Brazilian researchers report.
