Search

Klinefelter syndrome (KS) is the most common chromosome aneuploidy and a common cause of infertility in males. KS patients have at least one extra X chromosome, and about 80% of patients have the karyotype 47,XXY. Twenty percent of KS patients have higher-grade aneuploidies (48,XXXY, 48,XXYY, 49,XXXXY) and exert some clinical manifestation different from those with 47,XXY. Here we report the case of a young man who initially presented with diabetic ketosis and foot ulcer and was later diagnosed as having an extremely rare mosaic variant of KS (47,XXY/48,XXXY/49,XXXXY). Clinical and laboratory features are summarized. The patient developed a severe foot ulcer with an 18-month history of diabetes. Learning disability was noted since early childhood. The patient had typical manifestations of KS, including increased height, sparse beard and body hair, and small penis. He also had some characteristic features of patients with additional sex chromosomes, including epicanthal folds, narrow palpebral fissures, prominent elbows, and undescended testicles. Severe myopia and myopic macular degeneration was also found. Lab tests revealed low testosterone and elevated FSH but normal LH levels. Chromosome analysis on lymphocytes revealed an aberration of 47,XXY/48,XXXY/49,XXXXY. This case provides information on KS patients with the extremely rare karyotype 47,XXY/48,XXXY/49,XXXXY, and also emphasizes the importance of considering KS in the differential diagnosis of a sterile male with diabetes.

Prader-Willi Syndrome (PWS) is a rare autosomal dominant disorder on the 15q11.2-q13 chromosome. PWS may impact metabolic, endocrine, and neurologic systems and combine with hypotonia, sleep disturbances, cognitive disability, central adrenal insufficiency, hypothyroidism, hypogonadism, short stature, and other diseases. Here ,we report a PWS patient with secondary diabetes mellitus. Clinical and laboratory features are summarized. The patient had typical manifestations of PWS including almond-shaped eyes, narrow temples, narrow nasal bridge, and short hands and feet. Lab test revealed hypogonadism and growth hormone deficiency. SNP array revealed one copy of chromosome 15 q11.2q13.1 was missing, with a length of about 6.4 mbp. This case emphasizes the importance of considering PWS in the differential diagnosis of an adolescent with diabetes. Antenatal history of neonatal hypotonia and childhood history of feeding disorder are the keys to the diagnosis of PWS.

Objective The trace element selenium (Se) is needed for regular biosynthesis of selenoproteins, which contribute to antioxidative defense systems and affect redox-regulated signaling. Elevated Se intake and selenoprotein expression levels have been associated with impaired hydrogen peroxide-dependent signaling by insulin, leading to hyperglycemia and insulin resistance. The relation of low Se intake with glucose status and carbohydrate metabolism is poorly known. Research design and methods A cross sectional analysis among healthy subjects residing in two Chinese counties with different habitual Se intakes was conducted. Fasted glucose levels were related to Se concentrations of 5686 adults by linear regression analysis with Se, body mass index, age, thyroid status, insulin and sex as independent variables. Results Serum Se correlated strongly and positively with glucose in the Se-deficient population. There was no strong relationship of Se and glucose in the non-deficient population. Overt hypoglycemia (serum glucose, Highlights • A cross-sectional study compared serum Se and Glc levels in 5686 healthy adults. • Half of the subjects were residing on Se poor soil and displayed Se deficiency. • These Se-deficient subjects showed a linear association of serum Se and Glc. • A well-matched control population with adequate Se supply showed no such relation. • This novel interaction may be relevant for disease and death risk in Se deficiency.

A 71-year-old man without previous history of diabetes was hospitalized after suffering polyuria for 1 month and involuntary movement of the left arm for 1 week. His random serum glucose was 42.05 mmol/l and his hemoglobin A1C was 14% (129 mmol/mol). His serum osmolarity was normal and his urine ketone was negative. Cerebral CT revealed hyperdensity in the right basal ganglia. The patient was diagnosed with diabetic hemiballism-hemichorea (HH). Intravenous insulin was given and later shifted to continuous subcutaneous insulin infusion. During the hospital stay, insulin titration was guided mainly by flash glucose monitoring (FGM). Finger-prick glucose was occasionally checked to verify the accuracy of the FGM. Rapid correction of severe hyperglycemia was achieved without hypoglycemia. HH resolved within 1 week after euglycemia was achieved. This case emphasized the importance of being alert for HH as the initial presentation of diabetes and neuroimaging negative diabetic HH. In addition, interstitial glucose-monitoring technologies including continuous glucose monitoring and FGM can facilitate inpatient intensive insulin therapy in diabetic HH by avoiding hypoglycemia.

Purpose High-protein diets were popular in weight control. However, the role of protein intake in adiposity and related metabolic conditions among general populations is not clear. We aimed to evaluate the associations of protein intake with adiposity and glycaemic control among adult Chinese in a nationwide population-based survey. Methods The data were from China Health and Nutrition Survey 2009. A total of 9360 men and women aged 18 years or older were included. Body fat percentage was calculated using validated Chinese-specific equations. Dietary intake levels of macronutrients were evaluated by food-weighing approach combined with a 3-day food intake recall. Results Averagely, our participants have 12.5% energy intake from dietary protein. With multivariate adjustment including total energy intake, the odds ratios (95% CIs) of excessive adiposity (body fat percentage ≥ 20/30% for men/women), and central obesity (waist circumference ≥ 90/80 cm for men/women) were 1.51 (1.30, 1.75) and 1.40 (1.21, 1.62), respectively, comparing extreme quintiles of relative protein intake, while fat and carbohydrate were not associated with adiposity indices. Moreover, higher relative protein intake was associated with elevated concentration of fasting glucose (β ± SE: 1.233 ± 0.583), fasting insulin (23.211 ± 9.191), glycated hemoglobin (1.057 ± 0.369), and insulin resistance indicated by homeostasis model assessment of insulin resistance (7.558 ± 2.928) (all P Conclusion In Chinese adults, higher habitual protein consumption may be associated with higher adiposity and worse glycaemic control, independent of total energy intake.

Epidemiological studies have supported the premise that an adequate selenium intake is essential for thyroid gland function.The objective was to investigate whether the prevalence of thyroid disease differed in two areas that were similar, except for very different soil/crop selenium concentrations.Cross-sectional observational study.The setting was two counties of Shaanxi Province, China, here defined as adequate- and low-selenium.A total of 6152 participants were selected by stratified cluster-sampling.Participants completed demographic and dietary questionnaires and underwent physical and thyroid ultrasound examinations. Serum samples were analyzed for thyroid function parameters and selenium concentration. Serum selenium was compared between different demographic, dietary, and lifestyle categories in the two counties. The relationship between selenium status, dietary factors, and pathological thyroid conditions was explored by logistic regression.Complete data sets were available from 3038 adequate-selenium participants and 3114 low-selenium participants in whom median (interquartile range) selenium concentrations differed almost 2-fold (103.6 [79.7, 135.9] vs 57.4 [39.4, 82.1] μg/L; P = .001). The prevalence of pathological thyroid conditions (hypothyroidism, subclinical hypothyroidism, autoimmune thyroiditis, and enlarged thyroid) was significantly lower in the adequate-selenium county than in the low-selenium county (18.0 vs 30.5%; P.001). Higher serum selenium was associated with lower odds ratio (95% confidence interval) of autoimmune thyroiditis (0.47; 0.35, 0.65), subclinical hypothyroidism (0.68; 0.58, 0.93), hypothyroidism (0.75; 0.63, 0.90), and enlarged thyroid (0.75; 0.59, 0.97).Low selenium status is associated with increased risk of thyroid disease. Increased selenium intake may reduce the risk in areas of low selenium intake that exist not only in China but also in many other parts of the world.

Graves' disease (GD) is a common organ-specific autoimmune disease with the prevalence between 0.5 and 2% in women. Several lines of evidence indicate that the shed A-subunit rather than the full-length thyrotropin receptor (TSHR) is the autoantigen that triggers autoimmunity and leads to hyperthyroidism. We have for the first time induced GD in female rhesus monkeys, which exhibit greater similarity to patients with GD than previous rodent models. After final immunization, the monkeys injected with adenovirus expressing the A-subunit of TSHR (A-sub-Ad) showed some characteristics of GD. When compared with controls, all the test monkeys had significantly higher TSHR antibody levels, half of them had increased total thyroxine (T4) and free T4, and 50% developed goiter. To better understand the underlying mechanisms, quantitative studies on subpopulations of CD4+T helper cells were carried out. The data indicated that this GD model involved a mixed Th1 and Th2 response. Declined Treg proportions and increased Th17:Treg ratio are also observed. Our rhesus monkey model successfully mimicked GD in humans in many aspects. It would be a useful tool for furthering our understanding of the pathogenesis of GD and would potentially shorten the distance toward the prevention and treatment of this disease in human.