scholarly journals 5-methyltetrahydrofolate: A mandatory support for T677T MTHFR SNP women suffering from premature ovarian insufficiency, endometriosis and/or multiple ART failures

Author(s):  
Kristy L Martin ◽  
◽  
Edouard J Servy ◽  
Yves JR Menezo ◽  
◽  
...  

A patients, age 39 in 2019, suffering hypermenorrhea, secondary dysmenorrhea and endometriosis with pelvic adhesions, Normal physical examination with an AMH value of 0.877 ng/L . At this time the couple had been trying to conceive for over 2 years while taking nature made prenatal vitamins and the wife was given 9 rounds of clomid treatments (6–50 mg, 3- 100 mg). She was advised to take DHEA and then started IUI and IVF with no success. On August, 2020, it was elected to check the couple for MTHFR mutation. The woman was found to be homozygous for T677T MTHFR mutation and her spouse homozygous for the C1298C MTHFR mutation but with a subnormal sperm. The patient and her spouse were both advised to discontinue any vitamins containing folic acid and start vitamins with a daily dose of 1,000 mcg of 5-MTHF (folate) with chelated zinc and a vitamin B complex. On December, 2020 spontaneous conception occurred. On July 27, 2021, a healthy 48.26 cm (19 inches), 3 kg (6 pounds 9 ounces) girl was delivered by c-section. Keywords: MTHFR 677TT SNP; endometriosis; ART failures; premature ovarian insufficiency; 5MTHF.

2019 ◽  
Author(s):  
Miomira Ivovic ◽  
Ljiljana Marina ◽  
Milina Tancic-Gajic ◽  
Zorana Arizanovic ◽  
Magdalena Stankovic ◽  
...  

2020 ◽  
Vol 16 ◽  
Author(s):  
Yasemin Taşcı ◽  
Rahime Bedir Fındık ◽  
Meryem Kuru Pekcan ◽  
Ozan Kaplan ◽  
Mustafa Çelebier

Background: Metabolomics is one of the main areas to understand cellular process at molecular level by analyzing metabolites. In recent years metabolomics has been emerged as key tool to understand molecular basis of disease, find diagnostic and prognostic biomarkers, and develop new treatment opportunities and drug molecules. Objective: In this study, an untargeted metabolite and lipid analysis were performed to identify potential biomarkers on premature ovarian insufficiency plasma samples. 43 POI subject plasma samples were compared with 32 healthy subject plasma samples. Methods: Plasma samples were pooled and extracted using chloroform:methanol:water (3:3:1 v/v/v) mixture. Agilent 6530 LC/MS Q-TOF instrument equipped with ESI source was used for analysis. A C18 column (Agilent Zorbax 1.8 μM, 50 x 2.1 mm) was used for separation of metabolites and lipids. XCMS, an “R software” based freeware program, was used for peak picking, grouping and comparing the findings. Isotopologue Parameter Optimization (IPO) software was used in order to optimize XCMS parameters. The analytical methodology and data mining process were validated according to the literature. Results: 83 metabolite peaks and 213 lipid peaks were found to be in semi-quantitatively and statistically different (fold change >1.5, p <0.05) between the POI plasma samples and control subjects. Conclusion: According to the results, two groups were successfully separated through principal component analysis. Among the peaks, phenyl alanine, decanoyl-L-carnitine, 1-palmitoyllysophosphatidylcholine and PC(O-16:0/2:0) were identified through auto MS/MS and matched with human metabolome database and proposed as plasma biomarker for POI and monitoring the patients in treatment period.


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