A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism.

Congenital hypothyroidism (CH) is caused by thyroid hormone deficiency present at birth. DUOXA2 (dual oxidase maturation factor 2) is one of the prerequisites for thyroid hormone synthesis. The present study explored the novel mutations of DUOXA2 in CH patients. Genomic DNA was extracted from peripheral blood of 47 unrelated CH patients, their family members and 100 healthy controls. All 6 exons and their flanking sequences of the DUOXA2 gene were PCR amplified and sequenced. Sequencing results were compared with the standard. Compound heterozygosity with DUOXA2 gene mutations at c.413-414insA (Y138X) and c.738C>G (Y246X) was identified in one patient, and absent in 100 healthy controls. Among them, the c.413­414insA (Y138X) mutation was a novel one. The patient with the c.413-414insA (Y138X) mutation had mild CH symptoms. This study is the first to report a novel c.413-414insA (Y138X) mutation for CH, thereby expanding the mutational spectrum of the DUOXA2 gene.

[Use body fat determination instead of simple body composition parameters evaluate the risk of metabolic syndrome in Fuzhou adults].

OBJECTIVE: To compare the application of two different definitions of MS (IDF2005 and ATPIII2001) in this study population. According to IDF2005, evaluate the impact of body fat content and its distribution for the risk of metabolic syndrome. METHODS: The sample of 818 subjects measure the simple anthropometric parameters including body mass index (BMI), waist circumference, waist-hip ratio (WHR), and so on. Body fat mass and distribution were measured by dual-energy X-ray absorptiometry (DEXA). Quartile method is used to analyse the relevance ratio of MS in different value of BF and TF. ROC curve is used in evaluating of tipping point of BF, TF, simple body composition parameters and reliability of diagnosis. The risk of MS were analyzed by logistic regression. RESULTS: According to IDF2005, when BF, TF > or = P50. the relevance ratio of MS has a remarkable increasing (P < 0.01), its matching BMI is 24 and 23 kg/m2, according to NCEP ATPIII2001, when BF, TF > or =P75, the relevance ratio of MS has a remarkable increasing, too (P < 0.01), its matching BMI value is 26 kg/m2, BF and TF of MS patients which diagnosed by IDF2005 are lower than ATPIII2001 (P < 0.05). For each additional level of BF,the odds ratios of MS prevalence were 1.952 (male) and 2.644 (female); for each additional level of TF,the odds ratios of MS prevalence were 3. 276 (male) and 3.058 (female), BMI, WHR were not into the equation. The AUCROC which used to evaluate the exist of MS by BF and TF is larger than 0.9, and has better performance in sensitivity and specificity than BMI and WHR; the best point of contact of MS in BF is 25% (male), 35% (female), in TF is 30% (male), 38% (female). CONCLUSION: ATPIII standards may have been missed MS patients with normal high fasting blood glucose value and abdominal obesity. The application of IDF2005 standards was proved better in this population. Compared with simple anthropometric parameters, the accumulation of body fat, especially trunk fat even more harmful, to is better to identify the risk of MS in Fuzhou adults population.