Purpose: Simple virilizing congenital adrenal hyperplasia (SV-CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disease caused by pathogenic variants of the CYP21A2 gene. Children with SV-CAH often experience delayed diagnosis, presenting with pseudo-precocious puberty in males and genital virilization in females. Genotyping is essential for diagnosis, treatment, optimization, and phenotype prediction. This study describes the clinical and genetic characteristics of SV-CAH to guide treatment strategies. Methods: From November 2016 to March 2023, 79 children (accounting for 34.3% of 230 CAH cases in the overall children’s cohort) from 75 families were classified as SV-CAH due to 21-OHD at the Vietnam National Children's Hospital. Forty-three children underwent CYP21A2 mutation analysis using multiplex ligation-dependent probe amplification and complete gene sequencing to detect pathogenic variants. Results: Median age at diagnosis was 4.5 years (interquartile range, 1 day–22.3 years). There were 38.0% males and 62.0% females. The most common symptoms were penile enlargement in males (53.3%) and clitoromegaly (87.8%) in females; the height standard deviation (SD) at diagnosis was 1.90±1.79 SD (-2.02 to 5.43) according to the World Health Organization; and bone age advancement was 4.65±2.59 years. Genetic analysis identified 21 pathogenic variants and 22 genotypes in 43 children. The most common variant was p.I173N (47.7%); the most common genotype was p.I173N/p.I173N (16.3%). Conclusion Children with SV-CAH are often diagnosed late. To avoid that, early genetic analysis should be prioritized, especially for children diagnosed through newborn screening programs. Determining the genotype is crucial for optimizing treatment strategies, ensuring personalized management, and avoiding overtreatment.

Background: Noise pollution has seriously negative effects on worker\u2019s health, especially their hearing ability. Occupational hearing loss is one of 21 insured occupational diseases. Occupational hearing loss is common in workers in transpostation, construction, energy heavy and light industry areas. Objectives: 1. To determine the degree of noise pollution in Thua Thien Hue Unity Auto Mechanical Joint Stock Company. 2. To evaluate occupational failing hearing and occupational hearing loss among workers in the company. 3. To promote preventive measures which imnimize occupational failing hearing and occupational hearing loss. Subjects and method:A cross-sectional, descriptive study was carried out in 254 employees in Thua Thien Hue Unity Auto Mechanical \r\n', u'Joint Stock Company. Results and Conclusion: 72.7% the employees of Thua Thien Hue Unity Auto Mechanical \r\n', u'Joint Stock Company have exposed to environmental noise at the level higher than the permitted one. The rate of occupational failing hearing among these people is rather high (33.1%), and occupational hearing loss rate is 11.8%. There is a increased rate of occupational hearing loss according to the employee\u2019s age and seniority. Proposed preventive measures should be immediately conducted (P < 0.05).\r\n', u'
Hearing Loss ; Noise-Induced/ epidemiology ; etiology ; pathology ;

Background: In Viet Nam, there were many researches on determining lead level in blood, food and environment. But until now, there were not researches on determining lead level in fishermen community. Objectives: Determine trace amount of lead by von-ampe dissolve anot using electrode BiFE. Analysis on trace amount of lead in blood and urine of fishermen in Canh Duong village. Propose solutions for preventing lead poisoning in studied community. Subjects and method: Fishermen in Canh Duong village, Phu Loc, Thua Thien Hue province. The method differential pulse-anodic stripping voltametry (DP-ASV) using Bismuth Film Electrodic in situ was successfully applied to measure lead levels in blood and 24h urine of fishermen in Canh Duong village. Results: The mean level of lead in blood of the suspected group (fishermen) in Canh Duong village (34,7 \xb5g/dL) was higher than that of the control group (16,3 \xb5g/dL). For both groups, 37 out of 40 blood samples (92,5%) had lead level higher than WHO\u2019s recommended level (10 \xb5g/dL). Especially, 6 of 40 blood samples (15%) had lead level higher than 50 \xb5g/dL. The lead level in 24h urine of suspected group had slightly higher (about 1,2 times) than that in the control group. The lead level of the two groups was much higher than the normal level. Conclusion: The method DP-ASV/BiFE in situ was applied successfully to determine lead level in blood and 24h urine. The investigative results of related information showed that: the risk of chronic lead poisoning in studied community very high.
Lead/ adverse effects ; chemistry ; antagonists & ; inhibitors ;