U.S. News and World Report's rankings of the top 50 children's hospitals for diabetes and endocrinology reflect reputation more than objective measures.

The objective of this short communication was to evaluate the roles of reputation and objective measures in U.S. News rankings of the top 50 children's hospitals for diabetes and endocrinology.

Validation of HbA1c of 6.5% for diagnosing diabetes mellitus via the use of taxometric analysis.

Purpose: Previous studies in which authors examined the internal and external validity of a glycemic cut-point for diagnosis of diabetes mellitus have provided mixed results. The purpose of the current study was to test the internal validity of the HbA1c 6.5% cut-point with taxometric analysis.

A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.

Context: Generalized glucocorticoid resistance syndrome is a rare familial or sporadic condition characterized by partial insensitivity to glucocorticoids, caused by mutations in the glucocorticoid receptor (GR) gene. Most of the reported cases are adults, demonstrating symptoms associated with mineralocorticoid and/or adrenal androgen excess caused by compensatively increased secretion of the adrenocorticotropic hormone.

Patient: We identified a new 2-yr-old female case of generalized glucocorticoid resistance syndrome.

Impact on bone of an estrogen receptor-alpha gene loss of function mutation.

Context: The kindred described is the only known instance of a germ line loss of function mutation of estrogen receptor (ER)-alpha.

Objective: Our objective was to assess the impact of a loss of function mutation in the ER-alpha gene on histomorphometry, bone volumetric density, bone geometry and skeletal growth, and ER-alpha heterozygosity on spine density and adult height in an extended pedigree.

Design And Participants: A longitudinal follow-up of the propositus with homozygous loss of function mutation of ER-alpha and single contact evaluation of the kindred were performed.

Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.

Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia. Because of the variable presentation of this disorder and previous dependence on liver biopsy to confirm diagnosis, it is likely that GSD0 is underdiagnosed.