OBJECTIVE: To investigate how serum uric acid (SUA) influences the reproductive outcomes among women with polycystic ovary syndrome (PCOS) undergoing freeze-all strategy. DESIGN: Retrospective cohort study. Setting: Reproductive center in a tertiary hospital in China. Population: 1115 women aged 20-40 years with PCOS were included. Method: The entire population was categorized into four groups based on SUA quartiles, logistic regression analysis was conducted to determine odds ratios (ORs) for reproductive and pregnancy complications, adjusting for potential confounders. Main Outcome Measures: Primary outcome was live birth, defined as the gestational age ≥28 weeks or weighing ≥ 1000 grams. RESULTS: In quartiles of SUA levels, there was no significant difference in the live birth rate from the lowest quartile (Q1: 57.9%) to the highest (Q4: 56.6%) (adjusted OR 1.08, 95% CI, 0.74-1.57, P=0.58). Similarly, SUA showed no significant effect on biochemical and clinical pregnancy rate, or miscarriage rate (p>0.05). Women in quartile 4 had added the risk of gestational diabetes mellitus (GDM) (adjusted OR 3.87, 95% CI 1.77-8.47), gestational hypertension (GH) (adjusted OR 3.82, 95% CI 1.16-12.58) compared with quartile 1. Women in quartile 4 also had an increased probability of preterm birth and low birth weight（adjusted OR 2.24, 95% CI 0.90-5.59；adjusted OR 3.58, 95% CI 0.88-14.56, respectively). CONCLUSION: No significant correlation was found between SUA and live birth in women with PCOS undergoing freeze-all strategy. However, elevated SUA increased the risk of GH, GDM and tended to increase the risk of preterm labor and LBWI.

Premature ovarian insufficiency (POI) refers to women premature amenorrhea before the age of 40, elevated levels of follicle stimulating hormone (FSH). In clinic, the etiology of POI remains unknown in most patients. In this study, seventy-four Chinese Han women with idiopathic POI were collected to analyze the genetic etiology. Triplet repeat-primed polymerase chain reaction (TP-PCR) was performed to screen the FMR1 (CGG)n premutation, and then 60 POI related genes were sequenced by targeted next generation sequencing (NGS) in POI patients with normal FMR1. One patient (1/74) with FMR1 premutation was identified. Targeted NGS revealed that 15.07% (11/73) patients had pathogenic or likely pathogenic variants of Mendelian genes (FOXL2, EIF2B2, CYP17A1, CLPP, MCM9, GDF9, MSH5, ERCC6, POLG). Ten novel variants in six Mendelian genes were identified, such as CLPP c.355A>C (p.I119L) and c.688A>C (p.M230L), MCM9 c.1157C>T (p.T386M) and c.1291A>G (p.M431V), GDF9 c. 238C>T (p.Q80X), MSH5 c.604G>C (p.G202R) and c.2063T>C (p.I688T), ERCC6 c.C1769C>T (p.P590L), POLG c.2832G>C (p.E944D) and c.2821A>G (p.I941V). This study enriched the variant spectrum of POI related genes and suggested targeted NGS was an efficient and optional further clinical test for POI patients without FMR1 premutation.