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Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure

DGYE-2010-0305.R2 5

Qin Chun-rong; Chen Shi-ling; Yao Ji-long; Li Tao; Wu Wei-qing

This study screened the TGFBR3 mutations in Chinese patients with idiopathic premature ovarian failure (POF) to gain a better understanding the genetic aetiology of POF.One hundred twelve Chinese patients with idiopathic POF and 110 women from normal controls were examined.The coding region and respective flanking intronic regions of the TGFBR3 gene were amplified by the PCR,and the DNA fragments were directly sequenced.Twenty-eight sequence variants, including 12 novel variants,were identified. These novel variants included 3 missense mutations,2 synonymous mutations,and 7 mutations in the intronic region.Three novel exonic missense variants were p.E458G,p.P824L,and p.I836V.The c.566-216G>A,c.566-71C>T,c.2022T>C, c.2502A>G,and c.2568G>A variants represented significantly different genotype distribution between POF cases and the controls.The binary logistic regression analysis of c.566-216G>A, c.566-71C>T,and c.2502A>G variants were significantly associated with the POF patients and the ATTAG haplotype was most significantly over-represented as compared with controls (P = 0.00121).The ATTGG and GCTGG haplotypes were significantly higher in controls than in patients (P = 0.00113 and 0.00055, respectively).Other less frequent haplotypes,such as GCCGA,was only present in the patients (P =0.00066).GTTGG was only present in the controls (P =0.00001). Significant diversity of genotype distribution and haplotype analysis suggested that TGFBR3 mutations may be responsible for the genetic aetiology of idiopathic POF in Chinese patients.

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The effect of intracytoplasmic sperm injection on the early hCG level in twin pregnancies

DGYE-2011-0013.R1 3

Ku Seung-Yup; KIM HOON; KIM SEOK HYUN; CHOI YOUNG MIN; KIM JUNG GU; MOON SHIN YONG

Abstract: Objectives: Since it has been suggested that intracytoplasmic sperm injection (ICSI) might impair the early development of embryos and twin pregnancies have physiologically different aspects from singleton pregnancies, we aimed to investigate the effect of ICSI on the hCG levels in twin pregnancies.

Methods: A total of 220 clinical pregnancies which underwent controlled ovarian hyperstimulation and in vitro fertilization/ICSI were analyzed restrospectively.

Results: No significant difference was shown in two groups of singleton pregnancies with the exception of fertilization rates. There was no significant difference of the hCG levels according to fertilization methods after adjustment for possible confounders such as age of patient and partner, BMI, treatment regimen, serum E2 on hCG day, number of oocytes retrieved and date of sampling.

Conclusions: The hCG values according to fertilization methods were not significantly different both in twin and singleton pregnancies with adjustment for confounders.

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A functioning FSH-secreting pituitary macroadenoma causing an ovarian hyperstimulation syndrome with multiple cysts resected and relapsed after leuprolide in a reproductive-aged woman.

DGYE-2011-0121 4

Macchia Enrico; Simoncini Tommaso; Raffaelli Valentina; Lombardi Martina; Iannelli,Aldo; Martino Enio

Bioactive gonadotropin-secreting pituitary adenomas are very rare in fertile women and can cause an ovarian hyperstimulation syndrome (OHSS).

A 31-years-old woman with oligo-amenorrhea, severe ovarian cystic swelling and high serum estradiol, was submitted to the resection of ovarian cysts and then treated with long-acting leuprolide 11,25 mg.

Two months later, the ovarian multicystic hyperplasia relapsed, thus a pituitary MRI was performed and a pituitary macroadenoma was detected.

On January 2010 she was referred to our Endocrinology Department where her hormonal evaluation showed high serum estradiol, FSH, α-subunit and inhibin with low LH.

On April 2010 she underwent a trans-sphenoidal pituitary adenomectomy, which rapidly regularized the hormonal profile, the ovary and pituitary morphology and the menses.

The case presented confirms that gonadotrophinomas occurring in reproductive-aged women frequently produce symptoms of ovarian hyperstimulation and proves that the use of GnRH analogs is not indicated in this condition.

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Effect of Follicular Fluid Oxidative Stress Parameters on Intracytoplasmic Sperm Injection Outcome

DGYE-2010-0283.R2 5

Bedaiwy Mohamed; Elnashar Sherief; Goldberg Jeffrey; Sharma Rakesh; Mascha Edward; Agarwal Ashok; Arrigain Susana; Falcone Tommaso

Objective: The purpose of this study was to evaluate the association between the follicular fluid (FF) reactive oxygen species (ROS) levels, total antioxidant capacity (TAC) and ROS-TAC score and pregnancy after intracytoplasmic sperm injection (ICSI).

Methods: A total of 138 consecutive women who had ICSI were included in this study. FF ROS and TAC were measured by enhanced chemiluminescence and colorimetric assay, respectively, and then the ROS-TAC score was calculated.

Results: Out of 138 included patients, 42 (30%) achieved pregnancy after ICSI. Log ROS, TAC, and the ROS-TAC score were not significantly different across diagnoses. Pregnant cycles were associated with significantly lower ROS (P <0.001), higher TAC (P < 0.001) and higher ROS-TAC scores (P < 0.001). After adjusting for age, there was a significant positive correlation between log ROS and the number of follicles on the day of HCG administration (Spearman rho = 0.20, 95% CI: 0.02, 0.39) as well as the number of oocytes retrieved (Spearman rho = 0.18, 0.001, 0.36) but not with TAC. Interestingly, in women with endometriosis, higher TAC levels and higher ROS-TAC scores were associated with a higher likelihood for finding normal oocytes (P = 0.005 and P = 0.002, respectively).

Conclusion: Oxidative stress parameters may be markers of metabolic activity within the follicle.

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Serum Magnesium Concentrations in Polycystic Ovary Syndrome and Its Association with Insulin Resistance

DGYE-2011-0007.R1 5

Sharifi, Faranak ; Mazloomi, sahar; Hajihosseini, Reza; Mazloomzadeh, Saideh

OBJECTIVE: It has been revealed that low serum magnesium (Mg) is often associated with insulin resistance (IR), cardiovascular problems, diabetes mellitus and hypertension. Polycystic ovary syndrome (PCOS) patients are known to have a high incidence of insulin resistance. This study was designed to determine whether women with PCOS exhibit serum magnesium deficiency and its potential association with IR.

SUBJECTS AND METHODS: In this cross sectional study 103 cases with PCOS and 103 normal women who were matched for their age and body mass index (BMI) were included. Blood samples were collected after an overnight fast and concentrations of calcium, magnesium, testosterone, dehydroepianderosterone sulfate (DHEA-S), insulin, fasting plasma glucose (FPG), triglyceride, total cholesterol and HDL-cholesterol were measured.

RESULTS: The risk of PCOS for subjects with Mg deficiency was 19 times greater than those who had normal serum Mg concentrations (p= <0.0001). No correlation was found between Mg and insulin sensitivity or secretion, FPG, dyslipidemias and also androgen concentrations. After adjustment for calcium concentration the role of magnesium to predict PCOS attenuated and became non-significant (ß:-1.9, P: 0.7).

CONCLUSION: present study provides the first evidence showing that magnesium deficiency is not associated with IR in PCOS. According the evidences of this study, serum calcium concentration is more potent predictor of PCOS than serum Mg and only calcium, not Mg, is related to insulin resistance in PCOS.

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