Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency / 亚洲男科学杂志(英文版)

In this study, we investigated the genetics, clinical features, and therapeutic approach of 14 patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct sequencing of PCR products of the steroid 5α-reductase type 2 gene (SRD5A2). The 5α-reductase activities of three novel mutations were investigated by mutagenesis and an in vitro transfection assay. Most patients presented with a microphallus, variable degrees of hypospadias, and cryptorchidism. Eight of 14 patients (57.1%) were initially reared as females and changed their social gender from female to male after puberty. Nine mutations were identified in the 14 patients. p.G203S, p.Q6X, and p.R227Q were the most prevalent mutations. Three mutations (p.K35N, p.H162P, and p.Y136X) have not been reported previously. The nonsense mutation p.Y136X abolished enzymatic activity, whereas p.K35N and p.H162P retained partial enzymatic activity. Topical administration of dihydrotestosterone during infancy or early childhood combined with hypospadia repair surgery had good therapeutic results. In conclusion, we expand the mutation profile of SRD5A2 in the Chinese population. A rational clinical approach to this disorder requires early and accurate diagnosis, especially genetic diagnosis.

Observations on the Therapeutic Effect of Combined Moxibustion and Medicine on the Clinical Remission Stage of Bronchial Asthma / 上海针灸杂志

Objective To investigate the clinical efficacy of gentle moxibustion plus oral Gushen Dingchuan pills in treating the clinical remission stage of bronchial asthma.Methods Ninety patients with bronchial asthma in the clinical remission stage were randomized to groups A,B and C,30 cases each.group A received moxa-stick gentle moxibustion;group B,oral administration of Gushen Dingchuan pills;group C,moxa-stick gentle moxibustion plus oral administration of Gushen Dingchuan pills.The course of treatment was three months in all the three groups.The TCM symptom score and the Asthma Control Test (ACT) score were recorded and serum immunoglobulin E (IgE) content was measured in the two groups before and after treatment.The clinical therapeutic effects were compared between the groups.Results The total efficacy rate was 76.7％ in group A,80.0％ in group B and 93.3％ in group C.there was a statistically significant difference in the total efficacy rate between group C and group A or B (P＜0.05).There were statistically significant pre-/post-treatment differences in the TCM symptom score,the ACT score and serum IgE content in all the three groups (P＜0.01).There were statistically significant post-treatment differences in the TCM symptom score,the ACT score and serum IgE content between between group C and group A or B (P＜0.01,P＜0.05).Conclusion Gentle moxibustion plus oral Gushen Dingchuan pills can improve immunologic function in patients with bronchial asthma in the clinical remission stage.

Male reproductive toxicity of bisphenol A / 中华男科学杂志

The reproductive toxicity of environmental endocrine disruptors has attracted substantial attention from researchers in recent years. Bisphenol A (BPA) is among the most prominent environmental estrogens worldwide, demonstrated to be related with the impairment of male reproductive function as well as other health problems, such as diabetes, obesity, cardiovascular diseases, and cancer. BPA acts primarily by mimicking antiandrogenic and estrogenic effects, disturbing the hypothalamic-pituitary-testicular axis and modulating gene expressions and enzyme activities in the hormone biosynthesis affecting steroids or its receptors. BPA is also involved in DNA methylation and the effects of epigenetics, resulting in dyszoospermia, oligoasthenoteratospermia/azoospermia and/or infertility in males. This review addresses the effects of BPA on male reproductive function, focusing on the mechanisms of its toxicity on spermatogenesis, semen quality, and the reproductive system.