- N Engl J Med 2021; 384:1262-1267
A 22-year-old man presented with progressive neurologic decline. A year before presentation, painless vision loss had occurred in the left eye, followed by the right eye. During the next 4 to 6 months, diffuse numbness, limb stiffness, whole-body weakness, and urinary incontinence had developed.
- 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 2020; 382:2161-2162
This proof-of-concept study tested whether an adjuvant eucaloric very-low-carbohydrate diet for 2 weeks added to first-generation somatostatin receptor ligand therapy would reduce IGF-I concentrations in patients with uncontrolled acromegaly. The diet appeared to result in IGF-I control in such patients.
- N Engl J Med 2020; 382:937-950
Pituitary adenomas account for about 15% of intracranial tumors. Clinical manifestations of disease reflect the oversecretion of the involved hormone, most commonly growth hormone, prolactin, corticotropin, or thyrotropin. Diagnosis and management of these disorders are reviewed.
- N Engl J Med 2018; 379:428-439
This study compared the indirect water-deprivation test with direct detection of plasma copeptin, a precursor of arginine vasopressin, in patients with hypotonic polyuria. Direct measurement of hypertonic saline–stimulated plasma copeptin had higher diagnostic accuracy.
- N Engl J Med 2018; 379:483-484
Pinpointing the cause of hypotonic polyuria in a patient poses a diagnostic and therapeutic challenge, particularly in distinguishing primary polydipsia (either psychogenic or nonpsychogenic) from partial pituitary insufficiency due to injury or neoplasm. Diabetes insipidus is one cause of hypotonic polyuria and previously was classified as either central or nephrogenic,...
- N Engl J Med 2017; 376:1451-1459
Only three biochemical tests — urinary free cortisol, plasma corticotropin, and plasma cortisol measurements — are needed to distinguish patients with Cushing’s syndrome from those with obesity or the metabolic syndrome.
- N Engl J Med 2016; 375:278-279
The first law of endocrine disease treatment is that an absent hormone should be replaced. As they report in this issue of the Journal, Kühnen et al.1 successfully applied this principle to two adult patients with genetic proopiomelanocortin deficiency, and both patients had impressive hunger reduction...
- N Engl J Med 2016; 375:240-246
Absence of proopiomelanocortin results in early-onset obesity, hyperphagia, hypopigmentation, and hypocortisolism. Two affected patients received setmelanotide, a new melanocortin-4 receptor agonist, which led to sustainable reduction of hunger and substantial weight loss.
- N Engl J Med 2016; 374:e25
A 36-year-old man presented with oral pain and loose teeth; four teeth had been lost spontaneously within the 6 months before presentation. Increased thirst and urination had developed during the preceding 4 months. Blood electrolyte levels revealed hypernatremia and dehydration.
- N Engl J Med 2015; 372:2207-2216
This review summarizes the salient discoveries that culminated in the development of vasopressin antagonists, focusing on their actions, side effects, emerging safety concerns, and important gaps in data. The review also considers how and when to use these agents.
- N Engl J Med 2013; 368:2513-2515
What is so magical about the age at onset of puberty in humans — currently set at approximately 11 years of age?1 Why not 6 or 16? Indeed, addressing this question from the perspective of evolutionary biology2 suggests that puberty, as defined by age at menarche...
- N Engl J Med 2013; 368:2467-2475
Little is known about genetic control of the timing of puberty. This study implicates an imprinted gene, MKRN3, in familial central precocious puberty. The data suggest that the encoded protein inhibits puberty.
- N Engl J Med 2013; 368:1992-2003
This report ascribes ataxia and hypogonadism to mutations affecting two proteins in a ubiquitination pathway, which affects the cellular disposal of specific proteins.
- N Engl J Med 2013; 368:1477-1488
This study shows that during critical illness, reduced cortisol breakdown, related to suppressed activity of cortisol-metabolizing enzymes, contributes to hypercortisolemia and hence corticotropin suppression, which may have clinical implications.
- N Engl J Med 2013; 368:1547-1549
Critical illness elicits a major stress response that activates the hypothalamic–pituitary–adrenal (HPA) axis. Furthermore, the administration of corticotropin stimulates cortisol secretion and causes structural changes in the adrenal gland that include adrenal-cell hypertrophy and hyperplasia.1 Adrenal glands that are obtained on autopsy from patients who have died after...
- N Engl J Med 2012; 366:914-924
This study assessed pasireotide, a somatostatin-receptor–binding analogue, at two dose levels for the treatment of Cushing's disease. The median urinary free cortisol level decreased by about 50% by month 2 and remained stable in the higher-dose and lower-dose groups.
- N Engl J Med 2011; 365:2520-2530
A 52-year-old man was admitted to this hospital because of weakness, leg swelling, and hypokalemia. During the hospital course, multiple infections were diagnosed and imaging studies revealed enlarged adrenal glands. A diagnostic procedure was performed.