- N Engl J Med 2022; 387:852-854
In this follow-up study involving two patients with POMC deficiency, treatment with the MC4R agonist setmelanotide resulted in a long-term reduction in body weight and BMI and induced satiety.
- N Engl J Med 2022; 386:2316-2326
A 29-year-old woman presented with recurrent bone fractures and hypophosphatemia. The patient had been well until 19 months before admission, when pain in the right foot developed. During the next 19 months, multiple fractures of the metatarsal bones of the right foot occurred. On admission, the blood phosphorus level was...
- N Engl J Med 2021; 385:2005-2007
Ever notice that hunger whets temper? A recent behavioral and neurologic study of mice delineates a neural circuit that may undergird the connection between hunger and mood.
- N Engl J Med 2021; 385:1619-1622
Mendes de Oliveira and colleagues now report in the Journal that variants in GNAS exons that encode the stimulatory G-protein alpha subunit (Gαs ) have a strong genetic association with severe obesity, owing to reduced signaling by the melanocortin 4 receptor (MC4R) and possible signaling...
- N Engl J Med 2021; 385:1581-1592
This study showed that some variants in GNAS (encoding the Gαs protein) cause childhood obesity. Subsequent findings indicate the broad clinical variability of a monogenic disease and have implications for the treatment of this genetic form of obesity.
- N Engl J Med 2021; 385:1604-1613
A 14-year-old girl presented with progressive swelling of the jaw. Six weeks before this admission, a nonpainful lump in the left lower jaw developed. The mass increased in size, and swelling of the left side of the face and neck developed. A biopsy specimen from the mass showed abundant giant...
- N Engl J Med 2021; 385:189-191
In this letter, the investigators report that continuous subcutaneous infusion of parathyroid hormone (1-34) in six patients who were between the ages of 5 weeks and 22 years and who had autosomal dominant hypocalcemia type 1 caused by mutations in the calcium-sensing receptor ameliorated hypocalcemic seizures.
- N Engl J Med 2021; 384:1647-1655
A newborn girl was admitted to the neonatal ICU after a planned cesarean section because of a neck mass, which was discovered on ultrasonography at 34 weeks 6 days of gestation. After birth, the mass measured 3.7 cm by 3.8 cm by 3.1 cm and displaced the internal jugular vein...
- N Engl J Med 2021; 384:967-969
The immune inhibition mediated by PD-1 receptor and its ligand, PD-L1, is targeted for suppression by drugs to treat cancer. Could augmenting this inhibitory axis prevent the immune system from rejecting transplanted islet-like cells? A recent study provides a qualified answer.
- N Engl J Med 2020; 383:2000-2002
A challenge to an Idaho law prohibiting transgender girls and women from joining female athletic teams raises important questions about the complex biology underlying sex, legal protections against discrimination, and human rights for transgender people.
- N Engl J Med 2020; 383:1974-1983
A 59-year-old woman with type 1 diabetes and a 2-year history of cognitive decline presented with obtundation. There was diffuse, symmetric hypointensity in the brain on T2-weighted images and abnormal susceptibility signal throughout the basal ganglia, thalami, dentate nuclei, and cortical surfaces of the cerebral hemispheres on susceptibility-weighted images. A...
- N Engl J Med 2020; 383:1494-1496
This letter describes the case of an adolescent boy with heterozygous STAT1 gain-of-function syndrome and type 1 diabetes. Diabetes and other features of the syndrome resolved with the use of the Janus kinase inhibitor ruxolitinib. The patient was able to discontinue insulin therapy and remained euglycemic.
- N Engl J Med 2020; 383:1248-1261
Congenital adrenal hyperplasia, a common autosomal recessive disorder, is potentially life-threatening in its classic form and may be asymptomatic or cause female infertility in its nonclassic form. This review focuses on CAH due to 21-hydroxylase deficiency.
- N Engl J Med 2019; 381:2270-2272
What is the effect of brown adipose tissue activity on insulin resistance? And what is the relevance of branched-chain amino acids? The results of a recent study that used mouse models provide some answers.
- N Engl J Med 2019; 381:1866-1869
Insulin resistance is a precursor to and accelerant of coexisting conditions such as type 2 diabetes, atherosclerosis, and nonalcoholic liver disease. A recent study of mouse models implicates elevated levels of ceramide and their effect on mitochondrial function in the mediation of cellular insulin resistance.
- N Engl J Med 2019; 381:852-861
Glucocorticoid replacement therapy prolongs the survival of patients with adrenal insufficiency, but life-threatening adrenal crises still develop in many such patients. This review examines the pathophysiology, epidemiology, and treatment of adrenal crises.
- N Engl J Med 2019; 381:552-565
Pheochromocytoma and paraganglioma are related tumors that differ mainly in location; pheochromocytomas are adrenal, and paragangliomas can be anywhere else. The symptoms are protean and common, but the tumors are rare. The diagnosis may signify an underlying genetic syndrome.
- N Engl J Med 2019; 380:2268-2270
Ectopic calcification results in mineralization of soft tissues such as the heart valves, blood vessels, and skeletal muscle. A recent study provides a genetic explanation of underlying tissue susceptibility to this process.
- N Engl J Med 2019; 380:1480-1482
A recent study suggests that irisin, a cytokine secreted by muscle during exercise, effects bone resorption and the differentiation of preadipocytes into thermogenic brown fat cells by displacing tethers between the cell and extracellular matrix molecules.