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 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Male hypogonadism has been recognized as one of the major causes of secondary osteoporosis, but most cases seem to be left undiagnosed. We report a 54-year-old case of mosaicism Klinefelter syndrome lacking typical clinical features such as tall stature or low intelligence, who was found to have marked decrease in lumbar bone mineral density (BMD: 0.686 g/cm2) during treatment of diabetes mellitus. In investigation for etiologies of secondary osteoporosis, he was diagnosed as having mosaicism Klinefelter syndrome (XXY/XY/XX). Although he was infertile, he lacked typical clinical features of Klinefelter syndrome. Testosterone replacement was started, which resulted in an increase in BMD up to 0.712 g/cm2 two months after the initiation of therapy. The fact that BMD increased shortly after the initiation of testosterone replacement therapy in the present case supported a beneficial effect of testosterone on BMD, as recently suggested in idiopathic hypogonadotropic hypogonadism. Although the present case was diagnosed as having mosaicism Klinefelter syndrome by investigating etiologies for osteoporosis, it may be stressed that male hypogonadism, in general, should be adequately suspected in the presence of infertility and from the findings of physical examination.
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PMID:Low bone mineral density in a case of mosaicism Klinefelter syndrome: rapid response to testosterone therapy. 988 14

In 1% of women, premature ovarian failure develops by 40 years of age, a condition causing amenorrhea, infertility, sex steroid deficiency, and elevated gonadotropins. Early loss of ovarian function has significant psychosocial sequelae and major health implications. These young women have a nearly two-fold age-specific increase in mortality rate. Among women with spontaneous premature ovarian failure who have a normal karyotype, half have ovarian follicles remaining in the ovary that function intermittently. Indeed, pregnancies have occurred after the diagnosis of premature ovarian failure. Thus, premature ovarian failure should not be considered as a premature menopause. Young women with this disorder have a 5% to 10% chance for spontaneous pregnancy. Attempts at ovulation induction using various regimens fail to induce ovulation rates greater than those seen in untreated patients; however, oocyte donation for women desiring fertility is an option. Young women with premature ovarian failure need a thorough assessment, sex steroid replacement, and long-term surveillance to monitor therapy. Estrogen-progestin replacement therapy should be instituted as soon as the diagnosis is made. Androgen replacement should also be considered for women with low libido, persistent fatigue, and poor well-being despite taking adequate estrogen replacement. Women with premature ovarian failure should be followed up for the presence of associated autoimmune endocrine disorders such as hypothyroidism, adrenal insufficiency, and diabetes mellitus.
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PMID:Premature ovarian failure. 992 18

Women have a higher prevalence of obesity than men in most developed countries. Obesity affects many aspects of women's health by increasing risk for heart disease, diabetes, breast cancer, and infertility. One reason for the gender difference in obesity may be that fluctuations in reproductive hormone concentrations throughout women's lives uniquely predispose them to excess weight gain. Studies in experimental animals and women have shown that hormonal changes across the menstrual cycle affect calorie and macronutrient intake and alter 24-hour energy expenditure. Pregnancy is a significant factor in the development of obesity for many women. Various factors are associated with excess weight retention following pregnancy, including weight gain during pregnancy, ethnicity, dietary patterns, and interval between pregnancies. There is a need to tailor recommendations for energy intake during pregnancy to individual women, and recent evidence also suggests that the timing of weight gain during pregnancy is a critical factor. Menopause is also a high-risk time for weight gain in women. Although the average woman gains 2-5 pounds during menopausal transition, some women are at risk for greater weight gains. There is also a hormonally driven shift in body fat distribution from peripheral to abdominal at menopause, which may increase health risks in older women. Hormone therapies have varying impacts on body weight and fat distribution. In summary, hormonal fluctuations across the female life span may explain the increased risk for obesity in women. Awareness of these factors allows development of targets for prevention and early intervention.
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PMID:The influence of sex hormones on obesity across the female life span. 992 57

Celiac disease is a permanent intolerance to ingested gluten that results in immunologically mediated inflammatory damage to the small-intestinal mucosa. Celiac disease is associated with both human leukocyte antigen (HLA) and non-HLA genes and with other immune disorders, notably juvenile diabetes and thyroid disease. The classic sprue syndrome of steatorrhea and malnutrition coupled with multiple deficiency states may be less common than more subtle and often monosymptomatic presentations of the disease. Diverse problems such as dental anomalies, short stature, osteopenic bone disease, lactose intolerance, infertility, and nonspecific abdominal pain among many others may be the only manifestations of celiac disease. The rate at which celiac disease is diagnosed depends on the level of suspicion for the disease. Although diagnosis relies on intestinal biopsy findings, serologic tests are useful as screening tools and as an adjunct to diagnosis. The treatment of celiac disease is lifelong avoidance of dietary gluten. Gluten-free diets are now readily achievable with appropriate professional instruction and community support. Both benign and malignant complications of celiac disease occur but these can often be avoided by early diagnosis and compliance with a gluten-free diet.
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PMID:The widening spectrum of celiac disease. 1007 17

In the common unidimensional theory of steroid action, steroids bind to intracellular receptors and modulate nuclear transcription and thus protein synthesis. These genomic steroid effects, being characterized by their delayed onset of action and their dependence on transcription and protein synthesis, have been known for several decades. In contrast, very rapid actions of steroids, which are considered to be of nongenomic origin, have been recognized more widely and characterized in detail only during the past ten years. Specific rapid effects of steroids and related hormones like vitamin D3 and thyroid hormones on cellular function involve a conventional second messenger cascade which in most cases includes phospholipase C, phosphoinositide turnover, intracellular pH and intracellular calcium ([Ca2+]i), and protein kinase C. Furthermore, binding sites in membranes have been characterized exposing binding features compatible with an involvement in rapid-steroid signaling. Characteristics of putative membrane receptors are completely different from those of classic intracellular steroid receptors; this also includes the inability of classic steroid receptor antagonists to inhibit those rapid nongenomic steroid actions. The physiological and pathophysiological relevance of these effects is still largely unclear, but their existence has been proven recently even under in vivo conditions. New drugs modulating nongenomic steroid actions may find applications in various areas such as the cardiovascular and central nervous systems, infertility and electrolyte homeostasis. This short review focuses mainly on the nongenomic actions of aldosterone and their cardiovascular implications.
Exp Clin Endocrinol Diabetes 1998
PMID:Nongenomic steroid actions: completing the puzzle. Aldosterone as an example. 1007 21

Laboratory services of the early 21st century will be heavily influenced by significant demographic redistributions and shifts in the incidence and prevalence of disease. A persistent influx of immigrants literally will change the face of the U.S. population. Persons born between 1946 and 1964 will reach middle and old age and will require testing for arthritis, diabetes, cardiac dysfunction, Alzheimer's disease, and stroke. Efforts to combat infertility will expand. Tuberculosis, wrongly assumed to be under control, will continue to proliferate. Testing will be needed for the millions of people living with AIDS and for the millions more infected or suspected to be infected with HIV. Cancer screening and information from genetic markers will widen. Public screenings will be routinely offered in assorted sites. As the national focus shifts from curing illness to promoting health, laboratory tests will assess healthy persons to a greater degree than ever.
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PMID:Changing disease patterns, shifting demographics: effects on laboratory services. 1017 18

Many adolescents present with hirsutism and irregular menses. The challenge for the clinician is to distinguish physiologic anovulatory cycles from true menstrual disorders such as PCOS, and to differentiate PCOS from other causes of hyperandrogenism in hirsute adolescents. Common clinical features seen in adolescents with PCOS include hirsutism, acne, menstrual irregularity, and obesity. Biochemical abnormalities include hyperandrogenism, acyclic estrogen production, LH hypersecretion, decreased levels of SHBG, and hyperinsulinemia. Management strategies for a patient with PCOS include treatment of features which may cause distress to the adolescent, such as hirsutism, acne, and irregular menses, and prevention of long-term sequelae. Oral contraceptive pills, antiandrogens, and cosmetic treatments are used to treat hirsutism, acne, and menstrual irregularity. Oral contraceptive pills or medroxyprogesterone acetate are given to prevent endometrial hyperplasia and carcinoma. Counseling about weight loss and nutrition are essential, as weight loss may improve signs of hyperandrogenism and menstrual irregularity and may prevent NIDDM and cardiovascular disease. Insulin-sensitizing agents show promise in terms of decreasing hyperandrogenism, restoring ovulatory cycles, treating infertility, and preventing long-term sequelae. Finally, it is important to recognize that adolescents with PCOS may experience psychological distress because of the clinical manifestations of hyperandrogenism or when confronted with the information that they have a chronic illness. Psychological support should be available for these young women. Future research is likely to further elucidate the pathophysiology of PCOS, identify candidate genes, and clarify which adolescents are at risk for long-term sequelae. Prospective studies are needed to identify which therapies could potentially reduce the risk of infertility, diabetes, cardiovascular disease, and endometrial carcinoma in young women with PCOS.
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PMID:Polycystic ovary syndrome. 1037 Jul 13

Chronic fatigue, arthralgia, infertility, impotence, cardiac disease, diabetes and abnormality of liver enzymes could point to the presence of haemochromatosis. A patient with one of these symptoms, a normal haemoglobin content, but an increased transferrin saturation and serum ferritin level most probably has a primary haemochromatosis. Most primary haemochromatoses have a genetic background. The diagnosis 'HFE-related haemochromatosis' is made when a homozygous Cys282Tyr mutation is found in the HFE-gene. However, in approximately 10% of the patients with the clinical features of primary haemochromatosis this mutation is absent. The treatment of primary haemochromatosis consists of regular phlebotomy. Liver biopsy is indicated if fibrosis, cirrhosis or another hepatic disease is suspected. Family screening of first-grade relatives is indicated for all patients with primary haemochromatosis.
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PMID:[Diagnosis and treatment of primary hemochromatosis]. 1042 53

Autoimmune disease occurs when the immune system attacks self-molecules as a result of a breakdown of immunologic tolerance to autoreactive immune cells. Many autoimmune disorders have been strongly associated with genetic, infectious, and/or environmental predisposing factors. Comprising multiple disorders and symptoms ranging from organ-specific to systemic, autoimmune diseases include insulin-dependent diabetes mellitus, rheumatoid arthritis, systemic lupus erythematosus, scleroderma, thyroiditis, and multiple sclerosis. There are also implications of autoimmune pathology in such common health problems as arteriosclerosis, inflammatory bowel disease, schizophrenia, and certain types of infertility. Largely of unknown etiology, autoimmune disorders affect approximately 3% of the North American and European populations, > 75% of those affected being women. This discussion provides a brief introduction to the immune system and tolerance maintenance, an overview of selected autoimmune diseases and possible mechanisms of immune autoreactivity, and a review of experimental autoimmune models.
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PMID:Introduction to immunology and autoimmunity. 1050 28

We describe a Caucasian male patient aged 31, who was referred to the Institute of Reproductive Medicine because of infertility and androgen deficiency and in whom we incidentally diagnosed a unilateral testicular tumor. The patient had received growth hormone (GH) since the age of 8 years. One case presenting with testicular neoplasm under growth hormone substitution has been described previously. In conclusion, it cannot be ruled out that GH treatment may be involved in the pathogenesis of germ cell tumor development. Special care should be exercised when patients with a history of maldescended testes require GH substitution. This care should include regular testicular ultrasonography at e.g. half-yearly intervals since sonography may detect testicular tumors long before they become clinically apparent.
Exp Clin Endocrinol Diabetes 1999
PMID:Seminoma in a 31-year-old patient on long-term growth hormone therapy. 1054 16


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