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.

Purpose: Cranial magnetic resonance imaging (MRI) is recommended to identify intracranial lesions in girls with central precocious puberty (CPP). Yet, the use of routine MRI scans in girls with CPP is still debatable, as pathological findings in girls 6 years of age or older with CPP are limited. Therefore, we aimed to identify the prevalence of brain lessons in CPP patients stratified by age group (0–2, 2–6, and 6–8 years). Methods: This retrospective cross-sectional study recruited 257 girls diagnosed with CPP for 6 years (2010–2016). MRI was used to detect brain abnormalities. Levels of luteinizing hormone, follicle-stimulating hormone, and sex hormones in blood samples were measured. Results: Most girls had no brain lesions (82.9%, n=213), and of the minor proportion of girls with CPP that exhibited brain lesions (17.1%, n=44), 32 girls had organic CPP. Pathological findings were detected in 33.3% (2 of 6) of girls aged 0–2 years, 15.6% (5 of 32) of girls aged 2–6 years, and 3.6% (8 of 219) of girls aged 6–8 years. Hypothalamic hamartoma and tumors in the pituitary stalk were the most common pathological findings. The likelihood of brain lesions decreased with age. Girls with organic CPP were more likely to be younger (6.1±2.4 vs. 7.3±1.3 years, p<0.01) than girls with idiopathic CPP. Conclusion Older girls appeared to have a lower prevalence of organic CPP. Clinicians should cautiously use cranial MRI for girls aged 6–8 years with CPP.

OBJECTIVETo investigate the inhibited effect of epigallocatechin-3-gallate (EGCG) on the expression of NPM1 in IMS-M2 cells harboring the NPM1 mutations.

METHODSCell proliferation assay was performed to test the effects of EGCG on cell growth of IMS-M2 cells harboring the NPM1 mutations. Western blot analysis were performed to test the protein expression of NPM1, AKT, those associated with apoptosis.

RESULTSEGCG can down-regulate the expression of NPM1 in IMS-M2 cells harboring the NPM1 mutations. Moreover, EGCG also suppressed the cell proliferation and induced apoptosis in IMS-M2 cells.

CONCLUSIONSThe results suggested that EGCG could be considered as a reagent for treatment of AML patients with NPM1 mutations.

Objective: To investigate the inhibited effect of epigallocatechin-3-gallate (EGCG) on the expression of NPM1 in IMS-M2 cells harboring the NPM1 mutations. Methods: Cell proliferation assay was performed to test the effects of EGCG on cell growth of IMS-M2 cells harboring the NPM1 mutations. Western blot analysis were performed to test the protein expression of NPM1, AKT, those associated with apoptosis. Results: EGCG can down-regulate the expression of NPM1 in IMS-M2 cells harboring the NPM1 mutations. Moreover, EGCG also suppressed the cell proliferation and induced apoptosis in IMS-M2 cells. Conclusions: The results suggested that EGCG could be considered as a reagent for treatment of AML patients with NPM1 mutations.

100 patients with ovarian cancer which were indicated of surgery at Tu Du Hospital from the year 2002 to 2004. The ultrasound scan results were compared with the anatonic pathology showed that ultrasound scan was a useful method in diagnosis and screening test for ovarian cancer. Especially the sensitivity and specificity of Doppler ultrasound were approximately 80%. Doppler ultrasound was the best method for diagnosis combination with the results of CA 125 in predicting the healthy and acute level of ovarian cancer
Ovarian Neoplasms ; diagnosis ; ultrasonography

100 patients had undergone for ovarian tumor at Tu Du Obstetrics and Gynecology Hospital from the year 2002 to 2004, in which 19 cases with malignant tumors and granulosa cell tumors, there were 81 benign cases. CA 125 was a biological test to predict the maglinancy and benign of granulosa cell tumors that had rather high predictation, mostly in cases of eliminating from ovarian tumor. CA 125 in serum at the theresholds of 35 UI/ml and 60 UI/ml gave the best result with the sensitivity and the specificity of 80%. CA 125 could use as systematic test before operation of the ovarian tumor pathology that applied in hospitals having surgical treatment this disease, the price of this test was not higher than CT scanning
Ovarian Neoplasms ; Neoplasms ; CA-125 Antigen ; Predictive Value of Tests

Research at Tu du hospital from 1998 to 2004 on 212 ovarian tumors with 48 ovarian cancers, from 16 to 82 years of age. Anapathology result: epithelial tumors (72,91%) are the most common with serious and mucinous cystadenocarcinomas; germ cell tumors (18,75%) had the second rank composed mainly of mixed germ cell tumors, endodermal sinus tumors and immature teratomas. 3 cases of genital stromatic tumor include all granuloma One case of krukenberg tumors. During the period 1998 to 2000, 50% of ovarian cancers are detected at an early stage I and II. This proportion has increased to 58% in the period from 2002 to 2004
Ovarian Neoplasms ; diagnosis ; epidemiology

All patients with ovarian tumors which were indicated for surgery at Tu Du Hospital were underwent ultrasound scan as a routine test. The ultrasound scan results were compared with the pathology results to evaluate the accuracy of ultrasound. There were 100 patients recruited for this study, in which 19 malignant tumors. According to Tokyo University classification, the sensitivity and specificity of ultrasound were 82.4% and 79%, respectively. According to the authors' classification, they were 82.8% and 88%. The sensitivity and specificity of Doppler ultrasound reached optimal value at RI < 0.5 and at PI < 1. Serious carcinoma and mucinous carcinoma had the highest prevalence (52.62%). Ultrasound could be used as a diagnostic and screening test for ovarian cancer
Ovarian Neoplasms ; diagnosis ; ultrasonography