X-chromosome gene dosage and the risk of diabetes in Turner syndrome.

ABSTRACT:

Background

Turner syndrome (TS) is caused by the absence or fragmentation of the second sex chromosome. An increased risk of diabetes mellitus (DM) has consistently been noted, but the specific phenotype and genetic etiology of this trait are unknown.

Methods

In a prospective study, we examined the prevalence of DM in adult participants in an intramural National Institutes of Health (NIH) TS study. Results were analyzed with respect to karyotype, age, body mass index (BMI), and autoimmune indices. Insulin sensitivity and secretion were compared in age- and BMI-matched euglycemic women with TS and healthy female controls. We compared gene expression profiles in lymphocytes from differentially affected TS groups.

Results

Type 2 DM was present in 56 of 224 (25%) of the w

SUBMITTER: Bakalov VK 

PROVIDER: S-EPMC2741724 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature