Parity and risk of ovarian cysts: Cross-sectional evidence from the Dongfeng-Tongji cohort study / 华中科技大学学报（医学）（英德文版）

Little is known about the association between parity and the risk of ovarian cysts. The aim of this study was to examine the association between parity and the risk of ovarian cysts among a population of Chinese women. A total of 20 502 women aged 45-86 years from the Dongfeng-Tongji Cohort study completed baseline questionnaires, medical examination and provided baseline blood samples. Participants were categorized into four groups according to parity (one, two, three, and four or more live births). Logistic regression models were used to investigate the association between parity and the risk of ovarian cysts. The prevalence of ovarian cysts in the study population was 4.0% (816/20 502). Increasing parity was associated with decreasing risk of ovarian cysts without adjustment for any covariates and after age-adjusted model (P<0.001). After adjusting for potential confounders, women who had had four or more live births had lower risk of ovarian cysts (OR: 0.51; 95% CI: 0.27-0.96) compared with women who had had one live birth. There was a consistent but non-significant decreased risk of ovarian cysts for women who had had two, and three live births (OR: 0.85; 95% CI: 0.68-1.05) and (OR: 0.84; 95% CI: 0.59-1.20) respectively compared with women who had had one live birth. It was concluded that higher parity was associated with decreasing risk of ovarian cysts in this population of Chinese women. These findings could be helpful in decision making in clinical practice for gynecologists when evaluating women suspected to have ovarian cysts.

Mutation analysis in families with 21-hydroxylase deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the steroid 21-hydroxylase gene (CYP21) mutations in families with 21-hydroxylase deficiency (21-OHD).</p><p><b>METHODS</b>The CYP21 gene mutations were detected in four patients with 21-hydroxylase deficiency and their relatives. The genomic DNA of the patients was isolated from whole blood.Two pairs of primers were used to amplify the CYP21 gene. The amplified PCR products were purified by agarose gel and then directly sequenced.</p><p><b>RESULTS</b>Six kinds of mutations were found. In the first family, the patient was a compound heterozygote carrying four different mutations (cluster E6, Q318X, A391T, P459H) onCYP21 gene, three mutations (cluster E6, Q318X, A391T) were on her maternal allele, a novel mutation was found:P459H. It located at codon 459 in exon 10 and changing a proline (CCC) to a histidine (CAC), and A391T was a rare mutation. In the second family, two kinds of mutations were found:cluster E6 and R483W. R483W was also a rare mutation. In the third family, the sequencing of the CYP21 gene of two patients revealed a homozygous T to A transition in codon 172 leading to substitution of isoleucine by asparagine (I172N).</p><p><b>CONCLUSION</b>Six kinds of mutations were found in three families with 21-hydroxylase deficiency. Using DNA sequencing we have identified a novel mutation (P459H) and two rare mutations (A391T, R483W) of the CYP21 gene. Although microconversion events are the main cause of mutations in the CYP21 gene, random mutations can also be the cause of 21-hydroxylase deficiency.</p>