Lipemic serum in a toddler with new-onset diabetes mellitus presenting with diabetic ketoacidosis.

Context: Significant hyperlipidemia causing lipemic serum in patients with poorly controlled diabetes is under-reported in children. The recognition of the severe hyperlipidemia is important for proper management and to prevent associated morbidities. Severe hyperlipidemia in patients with diabetic ketoacidosis should be considered.

Aortic distensibility and dilation in Turner's syndrome.

Background: Aortic dilation and dissection is reported in patients with Turner's syndrome, both with and without cardiovascular risk factors. The bicuspid aortic valve is closely associated with dilated aortic root, although expression of aortic dilation is variable. The determinants for variable expression of aortic dilation in individuals with Turner's syndrome, however, are unknown.

Severe failure to thrive in infant.

Failure to thrive in an infant has multiple etiologies and at times, is only manifestation of underlying serious disease. Bartter syndrome is a rare disease that manifests as failure to thrive. It can be diagnosed by a careful history, physical examination, and abnormal electrolyte pattern.

A genetic defect resulting in mild low-renin hypertension.

Severe low-renin hypertension has few known causes. Apparent mineralocorticoid excess (AME) is a genetic disorder that results in severe juvenile low-renin hypertension, hyporeninemia, hypoaldosteronemia, hypokalemic alkalosis, low birth weight, failure to thrive, poor growth, and in many cases nephrocalcinosis. In 1995, it was shown that mutations in the gene (HSD11B2) encoding the 11beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2) cause AME.

Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.

Apparent mineralocorticoid excess (AME) is a genetic disorder causing pre- and postnatal growth failure, juvenile hypertension, hypokalemic metabolic alkalosis, and hyporeninemic hypoaldosteronism due to a deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme activity (11 beta HSD2). The 11 beta HSD2 enzyme is responsible for the conversion of cortisol to the inactive metabolite cortisone and therefore protects the mineralocorticoid receptors from cortisol intoxication. Several homozygous mutations are associated with this potentially fatal disease.