Department of Gynecology, Qingdao Eighth People's Hospital, Qingdao, China.
Department of Obstetrics, Qingdao Eighth People's Hospital, Qingdao, China.
Cell Mol Biol (Noisy-le-grand). 2022 Jan 2;67(4):274-281. doi: 10.14715/cmb/2021.67.4.30.
A recurrent miscarriage is at least two consecutive miscarriages in the first trimester of pregnancy. Due to the dependence of pregnancy on endocrine changes in the menstrual cycle, its disorders can also affect the outcome of pregnancy. In addition to hormonal disorders, genetic changes are essential factors in recurrent miscarriage. The development and maturation of ovulation depend on the molecular signaling pathways that respond to androgens. Hundreds of mutations leading to resistance to androgen receptor (AR) gene function have been recorded, including the 5'UTR polymorphic region. Therefore, considering the role of androgen receptors and hormonal changes in recurrent miscarriage, this study was performed to investigate the relationship between hormonal changes and AR gene mutations in patients with recurrent miscarriage. In this regard, a case-control study was performed on 150 patients with miscarriage referred to the infertility center. Hysterosalpingography, parental karyotype, vaginal ultrasound, antiphospholipid antibody measurement, anticardiolipin antibody, history and physical examination were performed to evaluate the possible causes of recurrent miscarriage. Hormone levels of LH, FSH, TSH, and Prolactin were measured and compared in two groups with known and unknown causes. Blood samples were also taken from patients, and after DNA extraction, the PCR method was used to determine AR gene mutations. The mean age was 30.2 ± 7.1 years, the mean number of abortions was 2.6 ± 1.2, and the mean duration of marriage was 6.1 ± 2.1 years. The mean of hormones in the two groups with known and unknown causes was compared, that TSH was significantly lower in the group with unknown cause (P = 0.031) and prolactin was higher in recurrent miscarriage patients with polycystic ovaries (P = 0.048). Regarding genetic evaluation, in the 5'UTR region of the androgen receptor gene, deletion of T nucleotide was observed in the +25 position, but no significant difference was found between the two groups. Generally, the findings of this study showed that thyroid dysfunction and hyperprolactinemia should be considered as an endocrine disorder in people with recurrent miscarriage, and genetic evaluation showed that the AR gene mutation was not associated with recurrent miscarriage.
复发性流产是指至少连续发生 2 次妊娠 12 周前的流产。由于妊娠依赖于月经周期的内分泌变化，其异常也会影响妊娠结局。除了激素紊乱，遗传改变也是复发性流产的重要因素。排卵的发育和成熟依赖于雄激素反应的分子信号通路。已经记录了导致雄激素受体（AR）基因突变的数百种突变，包括 5'UTR 多态性区域。因此，考虑到雄激素受体和激素变化在复发性流产中的作用，本研究旨在探讨复发性流产患者激素变化与 AR 基因突变的关系。为此，对 150 例因流产而就诊于不孕不育中心的患者进行了病例对照研究。行子宫输卵管造影术、父母染色体核型、阴道超声、抗磷脂抗体检测、抗心磷脂抗体、病史和体格检查，以评估复发性流产的可能原因。测量两组患者已知和未知原因的 LH、FSH、TSH 和催乳素激素水平，并进行比较。还从患者处采集血样，提取 DNA 后，采用 PCR 方法确定 AR 基因突变。患者平均年龄为 30.2±7.1 岁，平均流产次数为 2.6±1.2 次，平均结婚时间为 6.1±2.1 年。比较两组已知和未知原因的激素均值，发现未知原因组 TSH 明显较低（P=0.031），多囊卵巢患者的催乳素较高（P=0.048）。关于遗传评估，在雄激素受体基因的 5'UTR 区域，在+25 位观察到 T 核苷酸缺失，但两组间无显著性差异。总的来说，本研究结果表明，甲状腺功能减退症和高催乳素血症应被视为复发性流产患者的内分泌紊乱，遗传评估显示 AR 基因突变与复发性流产无关。
