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

Coeliac disease is widespread and occurs in 0.5-l per cent of the population. Most sufferers show atypical symptoms and might well remain undiagnosed. Endomysial or human transglutaminase autoantibody levels of type IgA can be recommended as screening instruments combined with s-IgA for exclusion of such deficiency. In contrast, there is a high frequency of false-positive IgA gliadin antibody test results, especially where coeliac disease is common, as in chronic liver disease, diabetes, thyroid disease and conditions with chromosomal aberrations (Down syndrome and Turner syndrome). Despite this, gliadin antibodies of type IgA are still the best marker for coeliac disease in children under two years of age. While mass screening is not to be recommended, case finding is worthwhile in well defined risk groups, i.e. in cohorts with autoimmune disease or chromosomal aberrations or in relatives to anyone with coeliac disease. A positive biopsy is still the gold standard for diagnosis.
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PMID:[Screening gor celiac disease can be justified in high-risk groups]. 1563 Dec 26

Women with Turner syndrome (TS) have increased risks of atherosclerosis, diabetes mellitus, and obesity. We hypothesized that women with TS have adverse metabolic or inflammatory markers for cardiovascular disease compared with normal women and estrogen-deficient controls. This was a cross-sectional study conducted at University College London Hospitals, UK. One hundred seventeen estrogen-treated women with TS and normal fasting blood glucose were compared with 30 age-matched normal controls and 31 estrogen-treated women with 46,XX premature ovarian failure (POF). The main outcome measures were markers of the metabolic syndrome, including the adipokines IL-6 and leptin, and C-reactive protein (CRP). TS women were more obese than controls (waist circumference, 79.9 +/- 12.4, 73.5 +/- 6.9, and 74.7 +/- 8.6 cm in TS, normal subjects, and POF controls, respectively; P = 0.005; body mass index, 26.8 +/- 5.8, 23.7 +/- 3.2, and 22.9 +/- 3.4 kg/m2; P < 0.001). This obesity was associated with increased CRP (2.9 +/- 1.5, 0.8 +/- 1.0, and 1.2 +/- 0.9 mg/liter; P < 0.001) and IL-6 concentrations (1.5 +/- 0.7, 1.0 +/- 1.5, and 1.2 +/- 0.5 pg/ml; P = 0.014), but lower fasting serum insulin (4.7 +/- 2.3, 6.3 +/- 3.0, and 6.9 +/- 2.9 mIU/ml; P = 0.004), glucose (83 +/- 11, 90 +/- 7, and 90 +/- 7 mg/dl; P < 0.001), and leptin (10.2 +/- 6.3, 14.4 +/- 7.6, and 14.8 +/- 8.1 ng/ml; P = 0.048). Triglyceride concentrations were similar in TS and POF women and were greater than in normal controls (97 +/- 53, 97 +/- 53, and 71 +/- 27 mg/dl; P = 0.024). We conclude that women with TS have various physical and biochemical features suggestive of the metabolic/insulin resistance syndrome, but there is a discrepancy among CRP, IL-6, and leptin, with leptin and fasting insulin concentrations being lower than expected for the degree of obesity. Obesity and estrogen therapy do not fully explain these findings. Women with TS may have specific metabolic defects contributing to cardiovascular risk.
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PMID:Adipokine dysregulation in turner syndrome: comparison of circulating interleukin-6 and leptin concentrations with measures of adiposity and C-reactive protein. 1572 8

Growth hormone (GH) has been used to treat GH deficiency since the late 1950s, and recombinant GH has been available since 1985. GH is also approved to treat non-GH-deficient short stature, such as that seen in Turner syndrome, chronic renal insufficiency, Prader-Willi syndrome, children who are small for gestational age, and idiopathic short stature. There has been interest in using recombinant insulin-like growth factor I (IGF-I) to treat short stature, either alone or in combination with its binding protein, IGF binding protein (IGFBP)-3 (SomatoKine). IGF-I increases growth velocity in children with IGF deficiency, either as a result of growth hormone insensitivity syndrome (GHIS) or IGF-I gene deletion. However, there have been adverse events, particularly hypoglycemia, reported with administration of unbound IGF-I. In addition, the serum half-life of unbound IGF-I is shorter when administered to patients with GHIS, who have low serum concentrations of its primary binding protein IGFBP-3 than when administered to healthy individuals or to patients with an IGF-I gene deletion (who have normal levels of IGFBP-3). SomatoKine was developed to prolong the half-life and to counteract acute adverse events (particularly hypoglycemia) associated with IGF-I administration. SomatoKine appears to have a longer half-life in patients with GHIS than unbound IGF-I and fewer adverse events (including hypoglycemia) have been reported when administered to patients with diabetes.
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PMID:SomatoKine: is there a use in treating growth disorders? 1589 44

Turner syndrome is a common genetic disorder associated with abnormalities of the X chromosome and occurs in about 50 per 100,000 liveborn girls. It is associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids and infertility. Morbidity and mortality are increased throughout the lifespan. The average intellectual performance is within the normal range. A number of recent clinical studies have given new insight particularly into the adult phase of Turner syndrome. Treatment with growth hormone during childhood and adolescence enables a considerable gain in adult height. In most cases puberty has to be induced and female sex hormone replacement therapy is given during adulthood. Type 2 diabetes is often seen, and hypertension and associated cardiovascular disorders are frequent. The proper treatments of these disorders have not been firmly established. Since the risk of cardiovascular and endocrinological disease is clearly elevated, proper care during adulthood is crucial. Cognition and social functioning are altered in Turner syndrome.
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PMID:Turner syndrome in adulthood. 1628 80

Turner's syndrome is defined as a congenital disease determining by quantitative and/or structural aberrations of one from two X chromosomes with frequent presence of mosaicism. Clinically it is characterized by growth and body proportion abnormalities, gonadal dysgenesis resulting in sexual infantilism, primary amenorrhoea, infertility, characteristic stigmata, anomalies of heart, renal and bones and the presence of some diseases like Hashimoto thyroiditis with hypothyroidism, diabetes mellitus type 2, osteoporosis, hypertension. Turner's syndrome occurs in 1:2000 to 1:2500 female livebirth. The most frequent X chromosome aberrations in patients with phenotype of Turner syndrome are as follows: X monosomy - 45,X; mosaicism (50-75%), including 45,X/46,XX (10-15%), 45,X/46,XY (2-6%), 45,X/46,X,i(Xq), 45,X/46,X,del(Xp), 45,X/46,XX/47,XXX; aberration of X structure: total or partial deletion of short arm of X chromosome (46,X,del(Xp)) isochromosom of long arm of X chromosome (46,X,(i(Xq)), ring chromosome (46, X,r(X)), marker chromosome (46,X+m). Searching of X chromosome and mapping and sequencing of genes located at this chromosome (such as SHOX, ODG2, VSPA, SOX 3) have made possible to look for linkage between phenotypes and adequate genes or regions of X chromosome. In this paper current data concerning correlation between phenotype and karyotype in patients with TS have been presented.
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PMID:[Turner's syndrome--correlation between karyotype and phenotype]. 1682 Dec 24

Turner's syndrome (TS) is a chromosomal disorder where phenotypic females have either a missing chromosome (45 X0) or a structural aberration of one of the chromosomes. It is possible for TS to accompany such autoimmune diseases as thyroid diseases, inflammatory intestinal diseases, diabetes mellitus, psoriatic arthritis and juvenile rheumatoid arthritis. Herein, we present an unusual case with Ankylosing spondylitis (AS) and autoimmune thyroiditis associated with TS. We suggest that the possibility that TS patients may also develop such other diseases as AS apart from the already known accompanying autoimmune diseases should not be ruled out when monitoring TS patients.
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PMID:Ankylosing spondylitis in a patient with Turner syndrome: a case report. 1744 26

Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, bicuspid aortic valve) and may have progressive aortic root dilatation or dissection. These patients also are at risk of congenital lymphedema, renal malformation, sensorineural hearing loss, osteoporosis, obesity, diabetes, and atherogenic lipid profile. Patients usually have normal intelligence but may have problems with nonverbal, social, and psychomotor skills. Physical manifestations may be subtle but can include misshapen ears, a webbed neck, a broad chest with widely spaced nipples, and cubitus valgus. A Turner syndrome diagnosis should be considered in girls with short stature or primary amenorrhea. Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. Almost all women with Turner syndrome are infertile, although some conceive with assisted reproduction.
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PMID:Turner syndrome: diagnosis and management. 1770 42

Turner syndrome is the result of the complete or partial absence of one X-chromosome. As well as short stature and gonadal dysgenesis, a wide range of abnormalities which may not present themselves until adulthood, are seen in nearly every organ system. Adult women with this syndrome have a reduced estimated life expectancy due to the greatly increased risk of structural abnormalities of the heart and aorta, and of other cardiovascular disease. The latter is due to the higher prevalence of hypertension, type-2 diabetes mellitus and dyslipidaemia. Furthermore, Turner syndrome in adulthood is characterized by infertility and oestrogen substitution is often necessary. Due to the diverse and interconnected nature of these problems, women with Turner syndrome benefit from coordinated medical care provided by a multidisciplinary outpatient team including an internist-endocrinologist, a gynaecologist and a cardiologist. We advise a periodic medical screening of women with this syndrome.
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PMID:[Turner syndrome in adulthood: the need for multidisciplinary care]. 1806 41

Mutations in hepatocyte nuclear factor-1beta (HNF-1beta) gene cause a subtype of maturity-onset diabetes of the young (MODY5), whose clinical features are pancreatic beta-cell dysfunction, renal malformations, and in some females, internal genital malformations. Recently, we reported the first case of MODY5 and horseshoe kidney. The patient was the only male in a three-generation family with five affected females carrying renal cysts or dysplastic kidney. Diabetes mellitus, horseshoe kidney, and X chromosome monosomy or mosaicism can be observed in Turner syndrome (TS). In particular, diabetes mellitus affects about 50% and horseshoe kidney occurs in approximately 16% of patients. To investigate whether mutations/polymorphisms of HNF-1beta and X monosomy influence horseshoe kidney development, we evaluated HNF-1beta gene sequence in 13 patients with TS and several kidney abnormalities. Analysis of the nine exons including intron-exon boundaries of HNF-1beta revealed the presence in two subjects (15%) of a known intronic polymorphism, IV8+48insC. No specific variants were found. We conclude there is no direct relationship between horseshoe kidney in TS and mutation or polymorphism of HNF-1beta gene, but we speculate that target gene(s) of HNF-1beta, likely mapped on the X chromosome, is/are responsible of the horseshoe kidney formation in TS.
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PMID:Horseshoe kidney malformation in Turner syndrome is not associated with HNF-1beta gene mutations. 1792 47

Many surveys have indicated that short stature affects at least 95% of all patients with Turner syndrome (TS). It is also clear that growth hormone (GH) therapy can accelerate the physical development in girls with TS. According to some clinical experience diabetes type 1 may be considered as a contraindication for GH therapy leading to low efficacy and high risk of late complications due to hyperglycaemia and elevated IGF-1 level. We present the results of growth hormone therapy on the metabolic control in a girl with TS and type 1 diabetes treated with continuous subcutaneous insulin infusion. The parameters of metabolic control and insulin doses were compared before and after introducing GH therapy. The correct diurnal glycemia profile was obtained after 4-fold increase of basal insulin and 2-fold increase of the total daily dose. The acceleration of growth was observed during 3.5-year therapy and average linear growth velocity was 7 cm/year. Growth hormone administration in children with Turner syndrome and type 1 diabetes can be efficacious and safe.
Pediatr Endocrinol Diabetes Metab 2007
PMID:[Metabolic control and insulin administration in a girl with Turner syndrome and type 1 diabetes during long-term growth hormone therapy]. 1804 18


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