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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a preliminary study of twenty-three patients with gonadal dysgenesis (Turner's syndrome) and their families, correlation was sought between their serum defined HLA allele frequencies and their known tendencies toward abnormal immune responses and diabetes mellitus, since individuals with the latter disorders have been shown to have an increased frequency of certain HLA types. We were unable to demonstrate an association between these major serum-defined histocompatibility antigens, immune homeostasis disturbances and sex chromosome aneuploidy in this group. It is felt, however, that testing involving the patterns of HLA-D and "HLA-D related" antigen frequencies should be obtained to further evaluate the possibility of such an association.
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PMID:HLA frequencies, diabetes mellitus and autoimmunity in Turner's patients and their relatives. 31 55

Tolbutamide (25 mg/kg: maximum 1 mg) intravenously (IV) and glucagon (0.03 mg/kg; maximum 1 mg) intramuscularly (IM) were given sequentially to 12 untreated girls with XO-Turner's syndrome (ages 6.5 to 17.0 years) and to ten female siblings (ages 8.0 to 16.7 years) to evaluate blood sugar (BS), plasma free fatty acids (FFA), serum immunoreactive insulin (IRI), and growth hormone (IRGH) responses to these insulinogenic secretagogues in order to appreciate any differences of genotypes on carbohydrate metabolism within identical family backgrounds. Seven of 12 patients with Turner's syndrome (58%) but none of the siblings were 20% or more overweight for height. There was a family history of diabetes mellitus in 7 to 12 patients (58%). The results showed significant elevations of mean FFA levels and decreased mean IRI responses to both insulinogenic stimuli without differences in mean BS or serum IRGH responses in the Turner's syndrome patients when compared to the controls. Three of 12 patients (25%) had abnormally elevated and prolonged blood sugar responses to IM glucagon. These findings show a significant incidence of abnormal carbohydrate and lipid metabolism and insulin deficiency in untreated patients with XO-Turner's syndrome when compared to normal female siblings and implicate this chromosomal defect in the impaired insulin secretion.
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PMID:Turner's syndrome and carbohydrate metabolism. I. Impaired insulin secretion after tolbutamide and glucagon stimulation tests: evidence of insulin deficiency. 46 42

Diabetes may be associated with many genetic disorders. The scientific importance of these often rare disorders resides in the insight they may provide into the possible mechanisms of common diabetes. The type of diabetes varies in these syndromes. Non-insulin-dependent diabetes (NIDDM), clinically similar to common NIDDM, may be found in some syndromes (e.g. Werner's syndrome). In others there may be considerable insulin resistance, such as that present in ataxia telangiectasia. Extreme insulin resistance due to abnormal insulin receptor function is found in the Mendenhall syndrome. The mechanism of diabetes is more obscure in acute intermittent porphyria (AIP), although haem deficiency affecting the cytochrome chain raises interesting possibilities. In glycogen storage disease type I, the diabetes is associated with insulinopenia, following an earlier period in the disease when hypoglycaemia is the rule. IDDM, clinically similar to the common form, is present in the autoimmune polyglandular syndromes. Although a change in the lean:fat ratio is common in many neuromuscular disorders, mechanisms other than insulin resistance would seem to operate. The increased incidence of diabetes in heterozygotes for some of these genetic disorders raises the possibility that many common diabetics are, in fact, heterozygotes for some other disorder. The increased frequency of diabetes in Klinefelter's syndrome, Turner's syndrome and possibly Down's syndrome leads to the hypothesis that non-disjunction may, in some way be associated with the predisposition to diabetes. In several syndromes there is an increased incidence of diabetes in otherwise unaffected relatives of individuals with these syndromes. It is impossible to assess what proportion of common NIDDM or IDDM is made up of heterozygotes for these genetic syndromes.
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PMID:Diabetes secondary to genetic disorders. 144 74

Patients with dysgenetic gonads and Turner syndrome are unlikely to develop endometrial carcinoma unless they have received unopposed estrogen replacement therapy. This case describes a 54-year-old woman with Turner syndrome and primary amenorrhea who developed adenocarcinoma of the endometrium without having received hormone replacement. Vaginal bleeding, a pelvic mass, and sepsis were the presenting symptoms. The patient also had diabetes mellitus and hypothyroidism. Polyglandular endocrine patterns are known to occur with a high frequency in these patients. The woman's chromosome studies revealed a modified 46,X,i(Xq) (isochromosome X). This is the first report of an isochromosome X patient to develop endometrial cancer without receiving estrogen replacement. The etiology of this rare case may be an increased propensity for patients with X-chromosome deletions to develop neoplasms in general, or extragonadal estrogen production.
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PMID:Endometrial adenocarcinoma without prior hormone replacement in a diabetic patient with gonadal dysgenesis. 156 85

The associations or linkages between the polymorphisms of the Gm and Km immunoglobulin allotypes and the susceptibility to autoimmune diseases, including diseases with immuno-pathological pathogenesis are reported in this review. These diseases include multiple sclerosis, rheumatoid arthritis, systemic lupus erythematosus, insulin-dependent diabetes mellitus, Crohn's disease, coeliac disease, Graves' disease, atrophic thyroiditis, Hashimoto's thyroiditis, myasthenia gravis, chronic active hepatitis, alopecia areata, uveitis, vitiligo, Turner's syndrome, glomerular nephritis, Berger's disease and idiopathic dilated cardiomyopathy. Immunoglobulin allotypes are described as well as the statistical methods used to analyse the data.
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PMID:Gm and Km allotypes in autoimmune diseases. 162 73

To evaluate whether insulin resistance contributes to the increased risk of diabetes in patients with Turner's syndrome, we measured insulin sensitivity (using the euglycemic insulin clamp technique, 40 mU/m2.min) and whole body glucose and lipid oxidation (assessed by indirect calorimetry) in two groups of nondiabetic patients with Turner's syndrome and age-matched normal controls. Group 1 consisted of eight young patients (mean age, 10 +/- 0.8 yr) who had never received hormone therapy, and group 2 consisted of five patients (mean age, 17.6 +/- 1.4 yr) who had been or were on estrogen therapy. In group 2, [3-3H]glucose was also infused during the euglycemic clamp to assess hepatic sensitivity to insulin. During the euglycemic clamp, insulin-stimulated glucose metabolism was decreased in both groups of patients [group 1, 8.4 +/- 1.0 vs. 14.7 +/- 2 mM/m2.min in controls (P less than 0.05); group 2, 9 +/- 0.7 vs. 11.7 +/- 0.9 mM/m2.min in controls (P less than 0.05)]. The impairment of insulin-stimulated glucose metabolism in patients with Turner's syndrome was accounted for by reduced nonoxidative glucose disposal; glucose oxidation rose to a similar extent in Turner patients and normal controls. Insulin-induced suppression of hepatic glucose production (group 2) and plasma FFA and branched chain amino acid levels in Turner patients was also indistinguishable from that in normal controls. Our data suggest that in patients with Turner's syndrome, insulin resistance is a very early metabolic defect that may be restricted to nonoxidative pathways of intracellular glucose metabolism.
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PMID:Insulin resistance: an early metabolic defect of Turner's syndrome. 200 9

A 59-year-old woman with Turner's syndrome developed epilepsy, diabetes mellitus, chronic psychosis, and subsequently pre-senile dementia. This would endorse the view that psychosis in Turner's syndrome arises through brain damage.
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PMID:Chronic psychosis in Turner's syndrome. Case report and a review. 209 57

Endometrial cancer is the cause of considerable morbidity among women, but the disease has been underrated and its management more casual than its virulence warrants. Endometrial carcinoma is the most frequently diagnosed invasive neoplasm of the female genital tract in the US, and is third in incidence after breast and colonic cancer. The white population of the US has the highest age standardized incidence of endometrial cancer in the world, India and Japan have the lowest, and the European countries occupy intermediate positions. Between 75% and 80% of women diagnosed with endometrial cancer are postmenopausal, and the mean age at diagnosis is about 60 years. In many cases endometrial hyperplasia is misdiagnosed as frank malignancy. The predisposing factors for endometrial cancer seem to be obesity, hypertension, diabetes mellitus or an abnormal glucose tolerance curve, and prolonged or unopposed estrogen stimulation. Raised estrogen levels may occur in the following situations: 1) women with functioning ovarian tumors that produce estrogen; 2) women with polycystic ovarian disease; 3) women with ovarian dysgensis (Turner's syndrome) managed with estrogen replacement therapy; 4) women taking high estrogen sequential oral contraceptives (OCs); and 5) women undergoing estrogen replacement therapy. There is an increased risk of endometrial carcinoma associated with nulliparity. Carcinoma of the endometrium occurs in a variety of subtypes, the most frequent being adenocarcinoma, followed by adenocanthoma, adenosquamous carcinoma, clear cell carcinoma, papillary adenocarcinoma, and secretory carcinoma. Overall 5-year survival rates are 72% for adenocarcinoma, 68% for adenocanthoma, and 26% for adenosquamous carcinoma. The true extent of endometrial cancer can be ascertained only after exploratory laparotomy and then various therapies may be used according to the stage of the disease.
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PMID:Carcinoma of the endometrium. 637 16

The 46, X, i(Xq) karyotype of isochromosome for the long arm of the X chromosome has been found to be a frequent structural abnormality in Turner's syndrome. To characterize the endocrine, metabolic, and psychometric features of such patients, nine subjects, aged 12 to 49 years, with this specific cytogenetic abnormality were studied. Although eight of the nine patients had a mosaic chromosome pattern, five had a greater proportion of i(Xq) cells than XO cells, and in four of these the proportion of i(Xq) cells was over 80%. Eight of the nine isochromosomes were metacentric and most had a single C-band. Two subjects were hypothyroid, six had thyroid antibodies present and five had parietal cell antibodies. Oral glucose tolerance testing was abnormal in three and elevated insulin levels were present in an additional two subjects. Psychometric testing showed some discrepancy between verbal and performance I.Q. scores, the performance scores generally being lower. Thus, thyroiditis, insulin insensitivity and diabetes mellitus, parietal cell antibodies, and a relatively low performance I.Q. are found in some of the 46, X, i(Xq) Turner's syndrome patients. The highest thyroid antibodies were present in the four subjects in whom more than 80% of cells were 46, X, i(Xq). Two of these subjects also had diabetes mellitus and three had antiparietal cell antibodies. These findings suggest an association of autoimmune disease with this particular cytogenetic abnormality.
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PMID:Endocrine, cytogenetic and psychometric features of patients with X-isochromosome 46, X, i(Xq) Turner's syndrome: a preliminary study in nine patients. 651 81

This study was conducted to investigate chromium metabolism and the effect of chromium supplementation in patients with Turner's syndrome, a condition noted for its high incidence of diabetes. Oral glucose tolerance tests were performed in 14 patients 8 to 19 yr of age. Eight of the 14 subjects were given 30 g of brewer's yeast containing 50 micrograms of chromium every day for 8 wk and glucose tolerance tests repeated. Urine samples were collected before and after each glucose load. Serum lipids were also investigated. Before supplementation, urinary chromium/creatinine ratio was high, and the urinary chromium response to oral glucose tolerance test was absent. Cholesterol and/or triglyceride levels were high in three of the patients. After supplementation, a decrease in urinary Cr/Cre ratio, and an improvement in glucose area index total were noted. A decrease in cholesterol and/or triglyceride levels occurred in the three patients with high initial levels as well as an increase in high-density lipoprotein cholesterol. These findings indicate a state of chromium deficiency and support the hypothesis that chromium deficiency may have a role in the pathogenesis of the abnormal glucose tolerance tests encountered in Turner patients.
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PMID:Alterations of chromium metabolism and effect of chromium supplementation in Turner's syndrome patients. 662 99


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