1/43. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have marked insulin resistance, hypertriglyceridemia and acanthosis nigricans, and develop diabetes mellitus during teenage years. The genetic defect for CGL is unknown. A semi-automated genome-wide scan with a set of highly polymorphic short tandem repeats (STR) was carried out in 17 well-characterized pedigrees and identified a locus for CGL to chromosome 9q34. The maximum two-point lod score obtained was 3.6 at D9S1818 (theta(max) = 0.05). There was evidence for genetic heterogeneity (alpha = 0.73) and 2 of the pedigrees were unlinked. Multipoint linkage analysis excluding the 2 unlinked families yielded a peak lod score of 5.4 between loci D9S1818 and D9S1826. The CGL1 critical region harbors a plausible candidate gene encoding the retinoid x receptor alpha (RXRA) that plays a central role in adipocyte differentiation. Identification of the CGL gene(s) will contribute to our understanding of the adipocyte differentiation and elucidation of the mechanisms of insulin resistance in disorders of adipose tissue.- - - - - - - - - - ranking = 1keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
2/43. insulin resistance and acanthosis nigricans. Report of a case with antibodies to insulin receptors.A 64-year-old black man presented with the syndrome of acanthosis nigricans and insulin-resistant diabetes mellitus requiring up to 3000 units of insulin per day. The patient's plasma contained circulating antibodies to insulin receptors thought to be responsible for the insulin resistance. The marked insulin resistance, the manifestations of acanthosis nigricans, the evidence of immunologic dysfunction by the absence of expected circulating antibodies to insulin, and the demonstration of circulating antibodies to insulin receptors put this patient in Kahn's category B of insulin resistance and acanthosis nigricans. There was no evidence of malignancy, lipodystrophy, or endocrine abnormality. The occurrence of acanthosis nigricans with insulin resistance due to binding of cell membrane insulin receptors by antibodies has been reported exclusively in women. This case report is the first description of a male patient with the syndrome of insulin resistance and acanthosis nigricans and focuses attention on features that might mislead one to suspect other causes of insulin resistance.- - - - - - - - - - ranking = 1keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
3/43. Type a syndrome of insulin resistance: anterior chamber anomalies of the eye and effects of insulin-like growth factor-I on the retina.BACKGROUND: The purpose of this work was to describe the anterior chamber and iris anomalies as well as to evaluate the effects of recombinant human insulin-like growth factor-I (rhIGF-I) on the retinal vessels in 2 diabetic patients with type A syndrome of insulin resistance, a rare condition associated with acanthosis nigricans. methods: Ophthalmologic examinations, including photographs and fluorescein angiograms, were performed before, and 2 and 4 weeks after starting subcutaneous rhIGF-I treatment, and 3 months after withdrawal of rhIGF-I treatment. RESULTS: Both patients had goniodysgenesis with mild elevation of the intraocular pressure. Before and after 2 weeks of treatment with rhIGF-I, the fundus and the fluorescein angiograms were mainly normal. After 4 weeks of rhIGF-I treatment both patients' retinas revealed leakage of fluorescein. Three (case 1) and 4 months (case 2) after withdrawal of rhIGF-I, the fundus of all four eyes were again without leakage. CONCLUSIONS: The anterior chamber anomalies found in these patients may be part of the type A syndrome of insulin resistance and could alert clinicians that these patients might not have the usual type of diabetes. Moreover, the data show that exogenous rhIGF-I administration in patients with type A syndrome of insulin resistance alters the permeability of the superficial layer of retinal capillaries which is comparable to the earliest angiographic changes in childhood diabetic retinopathy. Whether this is a direct effect of rhIGF-I, as suggested by experiments in an animal model, or an indirect effect due to the near-normalization of the glucose levels by rhIGF-I warrants further investigations. Finally, this work points to an important caveat regarding the therapeutic use of rhIGF-I in this patient population.- - - - - - - - - - ranking = 0.27736140792897keywords = diabetes (Clic here for more details about this article) |
4/43. alstrom syndrome in two siblings.alstrom syndrome is a very rare autosomal recessive inherited disorder. Only 50 cases have been reported since the syndrome was first described in 1959. This syndrome is characterized by obesity, impaired glucose tolerance with insulin resistance, retinal degeneration, neurosensory deafness, acanthosis nigricans, hepatic dysfunction, and some endocrine disorders. The index case of this report was a 12-year-old girl who became blind at the age of 6 years as the result of progressively impaired vision. At the age of 12, diabetes mellitus was diagnosed and acanthosis nigricans presented in the neck, axilla, and groin regions. Her 10-year-old brother had similar symptoms. electroretinography and audiometry disclosed generalized pigmentary epithelial change, decreased to absent cone and rod responses, and moderate sensorineural hearing loss in both siblings. biochemistry and oral glucose tolerance tests showed diabetes mellitus, dyslipidemia, and hepatic dysfunction in the index case. Elevations of insulin, c-peptide, and leptin concentrations were found in both siblings. insulin resistance was also demonstrated in both siblings using the modified insulin suppression test with constant infusion of somatostatin and exogenous insulin.- - - - - - - - - - ranking = 2keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
5/43. Oral acanthosis nigricans as a marker of internal malignancy. A case report.BACKGROUND: acanthosis nigricans (AN) is a rare mucocutaneous condition that can involve the oral tissues. There are 2 clinical forms of AN: benign and malignant. Benign AN is related to systemic diseases such as diabetes and obesity or can be induced by drugs such as systemic corticosteroids, nicotinic acid, estrogens, insulin, and fusidic acid. Malignant AN appears in association with tumors such as lung, ovarian, breast, and gastric carcinoma. methods: A rare case of malignant AN that initially manifested in the oral cavity of a 73-year-old patient is reported. RESULTS: A bladder and lung carcinoma were detected following the diagnosis of AN. CONCLUSIONS: The diagnostic importance of oral AN is emphasized because, in our patient, its recognition led to the detection of 2 occult malignant tumors.- - - - - - - - - - ranking = 0.27736140792897keywords = diabetes (Clic here for more details about this article) |
6/43. Ophthalmologic and systemic features of the alstrom syndrome: report of 9 cases.The alstrom syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, diabetes mellitus, sensorineural deafness and obesity. A normal intelligence is often present. We report 9 patients.- - - - - - - - - - ranking = 1keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
7/43. Type 2 diabetes presenting as diabetic ketoacidosis in adolescence.We report two black adolescent subjects who presented with diabetic ketoacidosis, but who lacked autoimmune markers and demonstrated clinical and biochemical characteristics more typical of Type 2 diabetes, including obesity, acanthosis nigricans, positive family history for Type 2 diabetes, and Type 2 diabetic dyslipidaemia. Subsequent to acute presentation, insulin was discontinued in both subjects and excellent glycaemic control was achieved with metformin therapy alone. Four months following acute presentation, both had adequate c-peptide responses to intravenous glucagon. Type 2 diabetes can present as diabetic ketoacidosis in obese adolescent subjects.- - - - - - - - - - ranking = 1.9415298555028keywords = diabetes (Clic here for more details about this article) |
8/43. Autosomal dominant insulin resistance syndrome due to postbinding defect.We investigated a family in which at least 4 men in 3 generations had a syndrome of obesity, mild mental retardation, delayed puberty, macroorchidism, acanthosis nigricans, hyperinsulinemia, and later overt insulin-resistant diabetes mellitus (non-insulin-dependent diabetes mellitus, NIDDM). The patients have markedly curly scalp hair, deficient face and body hair. Their teeth were healthy and normal in size and position. The clinical and biochemical findings and characteristics of the insulin receptors investigated in fibroblasts are reported. There was normal insulin binding to fibroblasts in the 2 brothers and their father. However, insulin-stimulated rna synthesis was decreased as compared to that of normal control individuals. These findings suggest a postbinding defect of insulin action. The pedigree documents an autosomal dominant mode of inheritance. The diagnosis is of practical importance since it enables medical supervision of gene carriers in a preclinical state of atherosclerotic complications and overt diabetes. The findings in this family have relevance also to the explanation of familial mild mental retardation and to the study of different forms of insulin resistance due to a disturbance in biosignal transfer.- - - - - - - - - - ranking = 2.277361407929keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
9/43. Is this patient insulin resistant? How much does it matter?Alex was an obese 10-year-old girl with a family history of type 2 diabetes, hypertension, and perhaps polycystic ovarian syndrome. Her physical examination was significant for a central accumulation of body fat and acanthosis nigricans. Although the laboratory studies indicated that Alex was not diabetic and probably not glucose intolerant, she could be insulin resistant (IR). Should any further evaluation be done? If Alex is IR, what kind of treatment should be offered? The following discussion addresses these questions by reviewing the pathophysiology, diagnosis, and consequences of isolated IR.- - - - - - - - - - ranking = 0.27736140792897keywords = diabetes (Clic here for more details about this article) |
10/43. Cushing's syndrome caused by unsupervised use of ocular glucocorticoids.OBJECTIVE: To report a case of Cushing's syndrome in an adult patient caused by prolonged and unsupervised use of glucocorticoid ocular drops. methods: We present the clinical and laboratory findings and describe the clinical course of our patient. RESULTS: A 33-year-old man with extensive ophthalmologic complaints and procedures, who had used glucocorticoid ocular drops for an extended period, was referred to the endocrinologist for new onset of type 2 diabetes mellitus. Clinically, the patient appeared cushingoid with a buffalo hump, thin skin, bruises, and purple striae, and his blood pressure was 130/90 mm Hg. Laboratory evaluation revealed a very low serum cortisol level with a concomitantly low-normal level of adrenocorticotropic hormone (corticotropin). In addition, the response to a corticotropin stimulation test was abnormal, an indication of suppression of the adrenal glands. After the patient discontinued the use of the glucocorticoid eyedrops, his cushingoid features gradually faded, and his blood pressure and serum glucose levels normalized. CONCLUSION: Prolonged unsupervised use of glucocorticoid ocular drops may result in Cushing's syndrome and its numerous associated complications. physicians and pharmacists should be aware of this possibility and must educate patients about the potentially serious adverse effects of such use.- - - - - - - - - - ranking = 1keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
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