Klinefelter’s syndrome (KS) is the most common sex chromosome disease in men. Classical features of the syndrome include a eunuchoidal body habitus, small testes and hypergonadotrophic hypogonadism. There has been an increased risk of diabetes mellitus and autoimmune disease for KS patients. This paper reports a case of KS in association with type 1 diabetes mellitus. The patient was a 21-year-old man, who has been confirmed by absolute insulin deficiency and positive IA-2 autoantibody. The hyperinsulinemic euglycemic clamp test indicated his insulin sensitivity in normal range, and his blood glucose was controlled well by the insulin therapy.
Adult ; Diabetes Mellitus, Type 1 ; diagnosis ; etiology ; Humans ; Klinefelter Syndrome ; complications ; diagnosis ; Male ; Young Adult

Diabetes Mellitus, Type 1 ; diagnosis ; etiology ; Humans ; Klinefelter Syndrome ; complications ; diagnosis ; Male

PURPOSE:Urine examination for microalbuminuria during the clinical silent years can help to identify those patients most likely to progress to overt nephropathy. The normalization of the AER(Albumin Excretion Rate) by alteration of glomerular hemodynamics may be the key to preventing or delaying overt nephropathy. The prognostic and therapeutic implications have led to attempts to identify patients with microalbuminuria as early as possible.Because diagnosis of microalbuminuria has required a 12 or 24 hour urine collection,there has been interested in developing tests that might serve as a first-stage screen for microalbuminuria. Most reports have dealt with the usefulness of either the albumin concentration or the albumin/creatinine ratio in a timed or randomly collected urine specimen. Exercise induced albumin excretion is increased compared to resting and could unmask latent glomerular damage. The purpose of this study is to evaluate diagostic significance of urinary albumin measurement after exercise in children with insulin dependent diabetes. METHODS:Fifty-seven patients with IDDM collected their overnight urine from 22:00 to 6:00 in following morning. Exercised method for urine examination was 100M running and collected 2 hour urine after exercise. The AER and Albumin/ creatinine ratio(ACR) were measured in the urine and compared with before and after exercise. RESULTS:Mean ages of diabetic children was 13.7 yrs old and duration of diabetes was 4.1+/-2.7yrs, HbA1c 8.6+/-1.9%,Systolic BP 107+/-10mmHg and Diastolic BP 67+/-8mmHg. The exercise induced AER was increased compared to before exercise(10.3+/-10.5 vs 18.1+/-16.0 mg/24hr). The exercise induced ACR also increased too(1.4+/-1.5 mg/g.Cr vs 4.1+/-3.6mg/g.Cr)(P<0.01). Two(3.5%) children with IDDM was positive for microalbuminuria in terms of AER before exercise and 8 children(14%) after exercise. No one positive for microalbuminuria in terms of Alb/cr before and after exercise. The charateristics of 8 children with microalbuminuria after exercise was no specific difference between positive and negative microalbuminuria. There was specific correlation between microalbuminuria and HbA1c(P<0.05) but sex, ages, duration of diabetes & blood pressure were not correlated with incidence of microalbuminuria. CONCLUSION: The mean timed urinary albumin excretion after exercise was significantly higher than before exercise. Measurement of timed urinary albumin excretion after exercise will be helpful for detecting microalbuminuria earlier.
Blood Pressure ; Child* ; Creatinine ; Diabetes Complications ; Diabetes Mellitus, Type 1 ; Diabetic Nephropathies ; Diagnosis ; Hemodynamics ; Humans ; Incidence ; Insulin ; Running

OBJECTIVETo investigate the diagnostic value of serum islet autoantibody-glutamic acid decarboxylase antibody (GADA) and islet cell antibody (ICA) in patients with hepatogenic diabetes.

METHODSSerum GADA and ICA were measured with enzyme-linked immunosorbent assay (ELISA) in 217 patients with chronic hepatitis B (CH) or liver cirrhosis (LC). The positivity rate of GADA and ICA in different phases of CH and LC and their relations with diabetes mellitus were analyzed.

RESULTSThe positivity rate of the islet autoantibody in the circulation was 72% in CH and LC patients with diabetes mellitus and 30% in patients with normal glucose level, showing significant difference between the two patient groups (Chi2=36.620, P=0.000). CH patients with diabetes had much higher positivity rate for the antibody [52% than type 2 diabetic patients with liver dysfunction [8%, P<0.05]. The positivity rate was also much higher in CH and LC patients with lowered C peptide level [70%] than in those with normal C peptide level [40%, P<0.005].

CONCLUSIONBoth GADA and ICA have important value in the diagnosis of hepatogenic diabetes and may serve as indexed in laboratory test for distinguishing hepatogenic diabetes from type 2 diabetes.

Adult ; Autoantibodies ; blood ; Diabetes Mellitus, Type 1 ; complications ; diagnosis ; immunology ; Diabetes Mellitus, Type 2 ; complications ; diagnosis ; immunology ; Diagnosis, Differential ; Female ; Glutamate Decarboxylase ; immunology ; Hepatitis B, Chronic ; complications ; Humans ; Islets of Langerhans ; immunology ; Liver Cirrhosis ; complications ; Male ; Middle Aged ; Predictive Value of Tests

Autoimmune diabetes is a heterogeneous disease which can arise at any age. Subjects with adult-onset autoimmune diabetes who do not necessitate insulin-therapy for at least 6 months after diagnosis are demarcated as having latent autoimmune diabetes in adults (LADA). This condition is more heterogeneous than young-onset autoimmune diabetes and shares clinical and metabolic characteristics with both type 2 and type 1 diabetes. Patients with LADA are considered by having highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, suggesting different pathophysiological pathways partially explaining the heterogeneous phenotypes of LADA. To date the heterogeneity of LADA does not allow to establish a priori treatment algorithm and no specific guidelines for LADA therapy are available. These subjects are mostly treated as affected by type 2 diabetes, a factor that might lead to the progression to insulin-dependency quickly. A personalised medicine approach is necessary to attain optimal metabolic control and preserve β-cell function to decrease the risk of long-term diabetes complications. Recent data concerning the use of oral antidiabetic agents as dipeptidyl peptidase 4 inhibitors and glucagon-like peptide 1 receptor agonists indicate up-and-coming results in term of protect C-peptide levels and improving glycaemic control. This review summarises current knowledge on LADA, emphasising controversies regarding its pathophysiology and clinical features. Moreover, we discuss data available about novel therapeutic approaches that can be considered for prevention of β-cell loss in LADA.
Adult* ; Autoantibodies ; C-Peptide ; Diabetes Complications ; Diabetes Mellitus, Type 1* ; Diabetes Mellitus, Type 2 ; Diagnosis ; Dipeptidyl-Peptidase IV Inhibitors ; Glucagon-Like Peptide 1 ; Humans ; Hypoglycemic Agents ; Insulin ; Insulin Resistance ; Islets of Langerhans ; Phenotype ; Population Characteristics

INTRODUCTIONThis study aims to evaluate the results of foot screening performed in a study population of 2137 diabetics (3926 feet) screened from 2006 to 2008 by the National University Hospital (NUH) multi-disciplinary team for diabetic foot problems.

MATERIALS AND METHODSA standardised protocol was designed. Foot screening consisted of detailed history taking and clinical examination including assessment for sensory neuropathy by Semmes Weinstein monofilament (SWMF) and neurothesiometer and assessment of vasculopathy by ankle-brachial index (ABI) and total body irradiation (TBI). The foot screening was performed by a trained staff nurse. All patients were classified according to King's College Classification.

RESULTSMajority of the patients were in the fifth (27.9%) and sixth (30.0%) decades of life. Two thousand sixty-four had type II diabetes, and only 73 had type I diabetes. Neuropathy was found in 1307 (33.3%) feet based on 5.07 SWMF. Vasculopathy was recorded in 510 (13.0%) and 546 (13.9%) feet based on ABI <0.8 and TBI <0.7. According to King's Classification, 1069 (50.0%) were Stage 1: Normal and 615 (28.8%) were Stage 2: At-Risk.

CONCLUSIONFoot screening should be performed as early as possible to detect "At-Risk" feet and prevent the development of diabetic foot complications, thereby further reducing the risk of major amputations.

Adolescent ; Adult ; Aged ; Child ; Comorbidity ; Diabetes Mellitus, Type 1 ; complications ; epidemiology ; Diabetes Mellitus, Type 2 ; complications ; epidemiology ; Diabetic Foot ; classification ; diagnosis ; Female ; Humans ; Male ; Mass Screening ; methods ; Middle Aged ; Prospective Studies ; Referral and Consultation ; Young Adult

We report a case of diabetic ketoacidosis (DKA) and hypertriglyceridemia (severely elevated to 15,240 mg/dL) complicated by acute pancreatitis, which was treated successfully with insulin therapy and conservative management. A 20-yr-old woman with a history of type 1 diabetes came to the emergency department 7 months after discontinuing insulin therapy. DKA, severe hypertriglyceridemia and acute pancreatitis were diagnosed, with DKA suspected of contributing to the development of the other conditions. In Korea, two cases of DKA-induced hypertriglyceridemia and 13 cases of hypertriglyceridemia-induced acute pancreatitis have been previously reported separately.
Acute Disease ; Diabetes Mellitus, Type 1/complications/diagnosis/therapy ; Diabetic Ketoacidosis/complications/*diagnosis/therapy ; Female ; Humans ; Hypertriglyceridemia/complications/*diagnosis/therapy ; Insulin/therapeutic use ; Pancreatitis/complications/*diagnosis ; Tomography, X-Ray Computed ; Young Adult

A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment was improved. Examinations of bone and metabolism revealed osteoporosis and craniofacial abnormalities. The mutation (c.6443T>G) of the NOTCH2 gene was found. The patient was diagnosed with HCS and DM. There may be a relationship between HCS and DM, with development of pancreatic symptoms related to the NOTCH2 gene mutation.
Adult ; Bone Density ; Craniofacial Abnormalities/complications/radiography ; Diabetes Mellitus, Type 1/*complications/diagnosis ; Diabetic Ketoacidosis/complications/genetics ; Glycosuria ; Hajdu-Cheney Syndrome/*complications/diagnosis/radiography ; Humans ; Ketone Bodies/urine ; Male ; Mutation ; Osteoporosis/complications/radiography ; Receptor, Notch2/*genetics ; Young Adult

OBJECTIVETo review the incident status of childhood type 1 diabetes mellitus hospitalized in the Children's Hospital of Zhejiang University School of Medicine from 1999 to 2009 and to explore the clinical value of IL-10 in diabetic ketoacidosis.

METHODSThe clinical data of 263 children with type 1 diabetes mellitus hospitalized in the Children's Hospital of Zhejiang University School of Medicine from January 1999 to February 2009 were retrospectively reviewed. Serum lipid levels were measured in 48 children with type 1 diabetes mellitus and in 24 healthy children. The diabetic children were classified into two subgroups, with or without ketoacidosis. Serum lipid and cytokines levels were compared.

RESULTSChildhood type 1 diabetes mellitus was common in females (56.3%). The peak incident age of the disease was between 6 and 11.9 years. Diabetic ketoacidosis was as the presenting symptom for the first visit in 86 cases (32.7%). The levels of serum lipid, blood glucose and HbA1c in diabetic children with ketoacidosis were significantly higher than those without ketoacidosis (P<0.05). Logistic analysis demonstrated that the increased levels of blood glucose, serum lipid and HbA1c were risk factors for diabetic ketoacidosis. The level of serum IL-10 in diabetic children with ketoacidosis was significantly higher than that in patients without ketoacidosis (P<0.01), while there were no differences in serum levels IL-2, IL4, IL-6, TNF-α and IFN-γ between them. Serum levels IL-2, IL-4, IL-6, IL-10, TNF-α and IFN-γ in diabetic children were significantly higher than those in healthy children (P<0.01).

CONCLUSIONSKetoacidosis is a common acute complication of type 1 diabetes mellitus. The disorders of glucose and lipid metabolism are the risk factors for ketoacidosis in diabetic children. IL-10 may be a sensitive index of diabetic ketoacidosis in children with type 1 diabetes mellitus.

Adolescent ; Child ; Child, Preschool ; Diabetes Mellitus, Type 1 ; blood ; complications ; Diabetic Ketoacidosis ; blood ; diagnosis ; Female ; Humans ; Infant ; Interleukin-10 ; blood ; physiology ; Logistic Models ; Male ; Retrospective Studies

Glycogenic hepatopathy (GH) is an uncommon cause of serum transaminase elevation in type I diabetes mellitus (DM). The clinical signs and symptoms of GH are nonspecific, and include abdominal discomfort, mild hepatomegaly, and transaminase elevation. In this report we describe three cases of patients presenting serum transaminase elevation and hepatomegaly with a history of poorly controlled type I DM. All of the cases showed sudden elevation of transaminase to more than 30 times the upper normal range (like in acute hepatitis) followed by sustained fluctuation (like in relapsing hepatitis). However, the patients did not show any symptom or sign of acute hepatitis. We therefore performed a liver biopsy to confirm the cause of liver enzyme elevation, which revealed GH. Clinicians should be aware of GH so as to prevent diagnostic delay and misdiagnosis, and have sufficient insight into GH; this will be aided by the present report of three cases along with a literature review.
Acute Disease ; Adult ; Alanine Transaminase/blood ; Aspartate Aminotransferases/blood ; Delayed Diagnosis ; Diabetes Mellitus, Type 1/complications/*pathology ; Diagnostic Errors ; Female ; Glycogen Storage Disease/complications/*diagnosis/ultrasonography ; Hepatitis/diagnosis ; Hepatomegaly/complications/*diagnosis/ultrasonography ; Humans ; Liver/pathology ; Recurrence ; Young Adult