Rare Diseases
From the Journals
Goodbye ‘diabetes insipidus’, hello ‘AVP-D’ and ‘AVP-R’
Confusion with the term ‘diabetes mellitus’ ... has spurred proposed name change by an international panel representing major endocrinology...
News
NORD Rare Disease Centers of Excellence: A new network seeks to break down barriers in rare disease care
“The goal was to find places that could help with unanswered questions, whether diagnostic questions or treatment questions.”
News
The broad and challenging – but promising – landscape of peripheral neuropathy
This review of peripheral neuropathy summarizes the more common causative entities, diagnostic tools, and treatments to prevent, slow, or reverse...
Latest News
With sleuth work, pediatricians can identify genetic disorders
For pediatricians, the process of deciding whether to refer a patient to a geneticist may entail ruling out nongenetic causes, considering patient...
News
FDA approves setmelanotide for obesity in Bardet-Biedl syndrome
The FDA cleared setmelanotide (Imcivree) for people age 6 and older with obesity due to a rare genetic disorder.
Latest News
Early puberty cases among girls surged during pandemic
Doctors have tied the current uptick to the stress of the pandemic and lockdowns, including reduced physical activity and increased consumption of...
Commentary
Growth hormone therapy for certain children may help them reach their potential
When should parents consider growth hormone therapy? In what cases is it warranted for children? Dr. Jessica Sparks Lilley discusses the need for...
Latest News
Lipedema: A potentially devastating, often unrecognized disease
“If patients with lipedema gain weight, the problem becomes even worse,” Dr. C. William Hanke said.
News
FDA approves levoketoconazole for Cushing syndrome
The drug, which inhibits cortisol synthesis, is seen as addressing an unmet need.
Latest News
FDA approves first once-weekly growth hormone for children
The heiGHt trial demonstrated noninferiority of lonapegsomatropin to somatropin daily injections.
Conference Coverage
Two treatments show early promise for hypothalamic obesity