Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011860 (type 2 diabetes)
 57,723 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

Turner syndrome afflicts approximately 50 per 100,000 females and is characterized by retarded growth, gonadal dysgenesis, and infertility. Much attention has been focused on growth and growth promoting therapies, while less is known about the natural course of the syndrome, especially in adulthood. We undertook this study to assess the incidence of diseases relevant in the study of Turner syndrome. The study period was from January 1, 1984 to December 31, 1993, and the study base was all women living in Denmark during the study period. We used data from the Danish Cytogenetic Central Register and the Danish National Registry of Patients to assess morbidity. This study supports several earlier studies reporting increased morbidity and confirms results of a recent study on cancer in Turner syndrome. Women with Turner syndrome seem to have an increased incidence of fractures, osteoporotic fractures in adulthood, and non-osteoporotic fractures in childhood. Furthermore, diabetes mellitus, both NIDDM and IDDM, was found with a markedly increased incidence in Turner syndrome, as well as ischemic heart disease, hypertension, and stroke. The risk of cancer, except cancer of the large bowel, does not seem to be elevated in Turner syndrome. Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, hyperinsulinemia and hyperuricemia). The present data may help to explain the decreased life span found in patients with Turner syndrome.
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PMID:Morbidity in Turner syndrome. 947 75

Turner's syndrome is a condition involving total or partial absence of one X chromosome and has been associated with a number of diseases including non insulin dependent diabetes mellitus, abnormalities of glucose metabolism and hypothreosis. There have been many case reports in which Turner's syndrome is associated with type 2 diabetes, but the association with type 1 diabetes and/or life threatening complications is very rare. We present an unusual case of a patient with Turner's syndrome who has type 1 diabetes and is complicated with ketoacidosis, severe acute and recurrent pulmonary edema and rhabdomyolysis.
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PMID:Diabetic ketoacidosis associated with recurrent pulmonary edema and rhabdomyolysis in a patient with Turner's syndrome. 1139 14

Several issues should be addressed when managing women with Turner's syndrome. Female sex hormone substitution should be offered to help prevent the increased morbidity seen in Turner's women, which consists of an increased risk of fractures and osteoporosis, and a clustering of diseases such as ischaemic heart disease, hypertension, stroke and type 2 diabetes, the latter entities being part of the insulin resistance syndrome. Furthermore, hypothyroidism is often seen, and the risk of type 1 diabetes may also be increased. Congenital malformations of the heart are frequently seen in Turner's syndrome, possibly increasing the risk of dissecting aorta aneurysm. Liver enzymes are often elevated and there may be an increased risk of liver cirrhosis. Mortality seems to be increased in Turner's syndrome, women with the "pure" 45,X karyotype being the most severely affected. In clinical practice, careful monitoring of glucose and bone metabolism, weight, thyroid function and blood pressure should be carried out. A cardiovascular risk profile should be determined and the patient informed of the risks and benefits of sex hormone replacement therapy. Sex hormone replacement therapy is highly recommended, although at present there are no longitudinal data documenting the long-term positive effect of sex steroid substitution. However, hypogonadism is expected to explain at least part of the decreased lifespan found in Turner's syndrome. Since general physicians only encounter these patients infrequently, it is recommended that the care and treatment of Turner's syndrome be centralized.
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PMID:Medical problems of adult Turner's syndrome. 1178 85

During the year 2000, several original studies were published regarding the metabolic effects of growth hormone therapy in pediatric patients. Pharmacologic doses of growth hormone were rarely associated with abnormalities in glucose tolerance in children with intrauterine growth retardation and Turner syndrome; however, serum insulin levels were elevated. A report from the Pharmacia International Growth Study database suggested a possible increase in type 2 diabetes in growth hormone-treated patients, indicating the need for continued surveillance for this condition. Growth hormone therapy increased markers of bone turnover and bone mineral density in children with chronic renal failure and Prader-Willi syndrome. In Prader-Willi syndrome, 2 years of growth hormone therapy also induced a sustained decrease in body fat, improvement in strength and physical skills, and increased lean body mass. Serum leptin, a reflection of body fat, declined with growth hormone therapy in a dose-dependent manner in intrauterine growth retardation children; the magnitude of the decline correlated with linear growth response. Skin is a target organ for growth hormone in children; growth hormone increased dermal thickness and reduced skin stiffness in growth hormone-deficient children. Reassuring data were published regarding the risk of tumor recurrence and mortality in children with brain tumors treated with growth hormone. Growth hormone administered to short children prior to kidney transplantation did not have adverse effects on subsequent graft survival or number of rejection episodes.
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PMID:Metabolic effects of growth hormone in the child and adolescent. 1213 Sep 8

Mild insulin resistance appears to be an early metabolic defect in girls with Turner syndrome (TS). Impaired glucose tolerance has been reported in 10-34% of patients with TS, and type 2 diabetes mellitus is 2-4 times more common and occurs at a younger age in girls with TS than in the general population. In a mixed longitudinal and cross-sectional study, we analysed carbohydrate tolerance and insulin sensitivity in 46 children and adolescents with TS who reached their final height after long-term treatment (mean 6.3 +/- 2.5 years) with growth hormone (GH: 0.33 mg/kg/week [0.05 mg/kg/day]), and in 36 of these patients who were followed-up after the cessation of GH therapy (mean follow-up, 2.6 +/- 2.5 years; range, 1-9.5 years). Patients with TS were compared with an age-matched female control group. Insulin sensitivity appeared to be lower in patients with TS than in controls, even before the start of GH therapy. As in controls, insulin sensitivity decreased with age in patients with TS, and levels were lower in those aged >12 years than in those aged <12 years. GH therapy resulted in good catch-up growth in patients with TS, with final height significantly higher than projected height evaluated before the initiation of GH therapy. Insulin sensitivity increased after 7-8 years of therapy and, on the cessation of GH therapy, returned to pre-treatment levels. The increase in insulin sensitivity seen on the cessation of GH therapy appeared to be influenced negatively by body mass index and triglyceride levels, and correlated positively with the number of years since cessation of GH therapy. As in the general population, excess weight and an abnormal lipid profile, in particular excess triglyceride levels, worsened insulin sensitivity. In conclusion, our study confirms that GH therapy reduces insulin sensitivity, but at its cessation there is a return to pre-therapy values. We therefore report a progressive improvement in carbohydrate tolerance and insulin function in patients with TS, despite an increase in age.
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PMID:Turner syndrome, insulin sensitivity and growth hormone treatment. 1643 45

Turner syndrome (TS) is a common genetic disorder, resulting from the partial or complete absence of one sex chromosome, and occurring in approximately 50 per 100,000 liveborn girls. TS is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. Morbidity and mortality are increased in TS but average intellectual performance is within the normal range. A number of recent studies have allowed new insights to be gained with respect to epidemiology, genetics, cardiology, endocrinology and metabolism. Elucidation of the effects of short stature homeobox protein deficiency has explained some of the phenotypic characteristics in TS, principally short stature. Treatment with growth hormone during childhood and adolescence allows a considerable gain in adult height, although the consequences of this treatment in the very long term are not clear. Puberty must be induced in most cases, and female sex hormone replacement therapy (HRT) is given during adult years. The optimal dose of HRT has not been established and, likewise, the benefits and drawbacks of HRT have not been thoroughly evaluated. The risks of type 2 diabetes, type 1 diabetes, hypothyroidism, osteoporosis, congenital heart disease, hypertension, ischemic heart disease, aortic dilatation and dissection, inflammatory bowel disease and celiac disease are clearly elevated, and proper care during adulthood is important. Currently no firm guidelines for diagnosis exist. In conclusion, TS is a condition associated with a number of diseases and conditions that are reviewed in the present paper. Individuals with TS need life-long medical attention.
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PMID:Clinical practice in Turner syndrome. 1692 65

Turner's syndrome (TS) is the most common chromosomal abnormality in female subjects, affecting 1 in 2,500 live female births. The most consistent clinical features associated with this syndrome are short stature and ovarian failure. TS results from the absence of X chromosome or the presence of an abnormal X chromosome. Adults with TS are susceptible to a range of disorders, including osteoporosis, type 2 diabetes mellitus, and coronary artery disease. Coronary artery disease is 1 of the most common causes of morbidity and mortality in patients with TS. In this report, the investigators present an unusual case of a patient with TS diagnosed with multivessel coronary artery disease at a younger age who underwent 3-vessel coronary artery bypass grafting.
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PMID:Turner's syndrome and coronary artery disease. 1731 84

Therapy with recombinant growth hormone is currently approved for the indications growth hormone deficiency,Turner syndrome, chronic renal failure, small for gestational age (SGA) and Prader-Willi syndrome. Positive experience from on-going clinical studies (e.g. on obesity, type 2 diabetes, Crohn's disease) support an extended range of applications for recombinant growth hormone. However, growth hormone therapy is very expensive. On the other hand, biosimilars are already available that are significantly lower in price. During the coming years, research must show whether the efficacy and safety of biosimilars (including possible new indications) are equal to that of the established preparations.
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PMID:[Therapy with recombinant growth hormone]. 1806 78

With an increasing spectrum of indications for growth hormone (GH), knowledge of the short- and long-term safety of this treatment is essential. In this chapter we review the main adverse effects that have been demonstrated or discussed after long-term GH treatment in children. It is well recognized that plasma insulin concentrations increase during GH treatment. The incidence of type 2 diabetes is raised during GH treatment, especially in subjects with other risk factors. Recommendations include assessing glucose tolerance by measuring plasma glucose and HbA1c before and during treatment. There is no consensus on the indications for insulin measurement and/or oral glucose tolerance tests. Other recognized short-term complications of GH treatment include pseudo-tumour cerebri, otitis media (Turner syndrome), and orthopaedic problems such as worsening of scoliosis and slipped femoral epiphysis. There are reports of sudden death within the first 6 months of treatment in children with Prader-Willi syndrome, mostly associated with severe obesity. Large cohort follow-up studies suggest that children treated with GH following childhood cancer treatment do not have a greater number of relapses, but there may be a higher incidence of second primary tumours in the early years of GH therapy. A cohort treated with human pituitary GH showed a higher incidence of tumours, and a GH effect on tumorigenesis has been seen in follow-up studies of acromegaly raising the question of whether de novo cancer risk may be increased. A new prospective pan-European safety surveillance study (SAGhE) has been launched to address these essential questions. The role of monitoring the IGF-1 response (total or free concentrations) to GH treatment to predict long-term safety is unclear at present. Attempts to target IGF-1 levels within the normal range may result in the use of excessive doses of GH. In general, higher dosage GH regimens may be associated with supraphysiological IGF-1 levels.
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PMID:Safety of recombinant human growth hormone. 2052 16


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