AMH type II receptor and AMH gene polymorphisms are not associated with ovarian reserve, response, or outcomes in ovarian stimulation.

PURPOSE: Genetic variation may influence women's response to ovarian stimulation therapy. The purpose of this study was to investigate any effects of genetic variants in the anti-Müllerian hormone (AMH) and AMH type II receptor genes on ovarian response/treatment outcomes and on current markers of ovarian reserve in individuals undergoing in vitro fertilisation (IVF) treatment. METHODS: In this prospective observational study, we genotyped the AMH c.146G>T, p.(Ile49Ser) and AMHR2 -482A>G variants in 603 unrelated women undergoing their first cycle of controlled ovarian stimulation for IVF and ICSI (intracytoplasmic sperm injection) using gonadotrophins at a tertiary referral centre for reproductive medicine. Pelvic ultrasound and blood hormone levels were taken on days 2-3 of the cycle. Genotypes were determined using TaqMan allelic discrimination assay. Regression analysis was performed to assess the relationship between the genotypes and the ovarian reserve markers (FSH, AMH, antral follicle count) and the early outcomes of response (number of oocytes retrieved and gonadotropin dose) as well as the treatment outcome (live birth). RESULTS: There were no significant associations between the variants AMH c.146G>T and AMHR2 -482A>G with ovarian response in terms of number of oocytes retrieved (p = 0.08 and p = 0.64, respectively), live births (p = 0.28 and p = 0.52) and/or markers of ovarian reserve. CONCLUSIONS: Genotyping of the AMH c.146G>T and AMHR2 -482A>G polymorphisms does not provide additional useful information as a predictor of ovarian reserve or ovarian response and treatment outcomes.

A single nucleotide polymorphism of bone morphogenic protein-15 is not associated with ovarian reserve or response to ovarian stimulation.

STUDY QUESTION: Is there any effect of the -9C>G variant in the bone morphogenic protein-15 (BMP15) gene on ovarian response and/or current markers of ovarian reserve in patients undergoing in vitro fertilization (IVF) treatment? SUMMARY ANSWER: No significant associations of BMP15 genotypes with ovarian response (number of oocytes retrieved) and/or markers of ovarian reserve were detected in our cohort of women undergoing IVF treatment. WHAT IS KNOWN ALREADY: There is evidence that genetic variation influences patients' response to ovarian stimulation therapy. BMP15 plays a role in the recruitment of primordial follicles. Therefore, variation in BMP15 could predict ovarian reserve and response to ovarian stimulation. Two previous studies have determined a significant correlation between the BMP15 -9C>G variant and over-response to ovarian stimulation. No studies to date have correlated this variant with ovarian reserve markers. STUDY DESIGN, SIZE, DURATION: In this prospective observational study, we genotyped the BMP15 -9C>G single nucleotide polymorphism in 239 unrelated women undergoing their first cycle of controlled ovarian stimulation for IVF and ICSI (intra-cytoplasmic sperm injection) using gonadotrophins at a tertiary referral centre for reproductive medicine between March 2009 and August 2010. PARTICIPANTS/MATERIALS, SETTINGS, METHODS: Baseline pelvic ultrasound and blood tests were taken on Days 2-3 of the cycle for assessment of baseline hormones and for DNA extraction. Genotypes were determined using TaqMan allelic discrimination assay. Regression analysis was performed to assess the effect of the BMP15 genotype on the ovarian reserve markers, serum anti-Müllerian hormone (s-AMH), follicle stimulating hormone (s-FSH) and antral follicle count (AFC), with adjustment for age and body mass index (BMI), and on the primary outcomes of response (number of oocytes retrieved and gonadotrophin dose) with adjustment for age, BMI and treatment received. MAIN RESULTS AND THE ROLE OF CHANCE: There was no evidence of any statistically significant (P < 0.05) difference in basal s-FSH, s-AMH and AFC between individuals with different BMP15 genotypes. The number of oocytes retrieved and gonadotrophin dose used were also comparable between the individuals with different genotypes. LIMITATIONS, REASONS FOR CAUTION: A larger sample size would be required in order to determine if the BMP15 genotype has a small effect on ovarian reserve or response. WIDER IMPLICATIONS OF THE FINDINGS: When considering the development of integrative clinical algorithms for individual FSH doses, our analysis suggests that the genotyping of BMP15 -9C>G does not provide additional useful information as a predictor of ovarian reserve or response to ovarian stimulation. STUDY FUNDING/COMPETING INTERESTS: The study was funded by the Manchester Biomedical Research Centre. The authors have no competing interests to declare.

FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI patients.

The objective of this study was to assess the role of the variant p.Asn680Ser in the FSH receptor gene (FSHR) in determining oocyte maturity. It also assessed the relationship between this FSHR variant with metaphase-II oocyte output rate (MOR) and the fertilization rate. This was a prospective observational study based at a tertiary referral centre for reproductive medicine. Women (n=212) undergoing their first cycle of ovarian stimulation for IVF with intracytoplasmic sperm injection (ICSI) were included in the study. Baseline pelvic ultrasound and blood tests were taken on day 2 or 3 of the cycle for assessment of baseline hormones and for DNA extraction. Genotypes for FSHR p.Asn680Ser was determined using TaqMan allelic discrimination assay. The outcome measures were the total dose of exogenous gonadotrophins used, antral follicle count (AFC), number of mature (metaphase-II) oocytes retrieved, MOR and fertilization rate. No statistically significant differences were found between the number of mature oocytes retrieved, MOR or fertilization rates among the patients with different p.Asn680Ser FSHR genotypes. No significant difference was noted in the clinical pregnancy rates per transfer. There is no evidence that the p.Asn680Ser FSHR genotype predicts oocyte maturity.

A common Asn680Ser polymorphism in the follicle-stimulating hormone receptor gene is not associated with ovarian response to gonadotropin stimulation in patients undergoing in vitro fertilization.

OBJECTIVE: To assess the role of the variant p.Asn680Ser in the follicle-stimulating hormone receptor (FSHR) gene in determining ovarian response in patients undergoing in vitro fertilization (IVF) treatment. DESIGN: Prospective observational study. SETTING: Tertiary referral center for reproductive medicine. PATIENT(S): Women (n = 421) undergoing their first cycle of controlled ovarian stimulation for IVF and 83 healthy, ethnically matched controls. INTERVENTION(S): Baseline pelvic ultrasound and blood tests taken on days 2 to 3 of the cycle for assessment of baseline hormones and for DNA extraction. MAIN OUTCOME MEASURE(S): Genotypes for FSHR p.Asn680Ser determined using TaqMan allelic discrimination assay, and ovarian response to gonadotropin treatment classified as normal, poor, or overresponse based on the number of oocytes retrieved. RESULT(S): The FSHR p.Asn680Ser genotype frequencies were similar in IVF patients and controls. The number of oocytes retrieved was comparable between patients with different FSHR receptor genotypes. The total amount of gonadotropin used was also similar in all the genotype groups. A logistic regression analysis showed nonstatistically significant twofold difference in the distribution of genotypes between the groups with poor and normal ovarian response. CONCLUSION(S): The variant FSHR p.Asn680Ser was not shown to be predictive of ovarian response, but clinically relevant differences cannot be ruled out.

Visual loss from a pituitary mass: collision tumors of prostatic metastasis and suprasellar meningioma.

Central nervous system spread from prostate cancer is typically associated with raised prostate specific antigen (PSA) levels. The authors describe a unique case of a "collision tumor" of a prostatic metastasis to the pituitary, juxtaposed to a suprasellar meningioma, with normal PSA levels. This case also emphasizes the need to consider prostatic metastasis in the differential diagnosis of a pituitary mass in patients with a known prostatic cancer, despite the normal PSA levels.

Chest fast MRI: an imaging alternative on pre-operative evaluation of Pectus Excavatum.

BACKGROUND: Standard imaging methods in evaluating chest wall deformities, such as Pectus Excavatum (PE) in paediatric and adolescent patients, include baseline 2-view chest radiography and chest CT scan. Only few studies to date investigated the value of fast MRIin the pre operative assessment of patient affected by PE. OBJECTIVE: To evaluate the efficacy of chest fast MRI in pre-operative management of patient affected by PE. To obtain the Haller Index (HI) and Asymmetry Index (AI) from chest fast MRI protecting patients from radiation exposure. MATERIALS AND METHODS: We analyzed the data of 42 consecutive patients with severe PE who underwent minimally invasive repair between March 2007 and March 2010. All 42 patients received chest fast MRI, but only the first 5 in view of the results, were studied also with chest ultrafast CT scan. In both examinations, data at the deepest point of the depression were collected. RESULTS: Severity indices of the deformity using HI and AI, collected from CT scan and fast MRI in the first 5 patients, were comparable. In the remaining 37 fast chest MRI offered good images of the chest wall deformities with no radiation exposure, detailing anatomical information such as displacement and rotation of the heart or great vessels anomalies. CONCLUSION: This study suggests the use of chest MRI in pre operative workup for patients with PE to obtain severity indices (Haller Index and Asymmetry Index avoiding radiation exposure to paediatric patients.