New genetic mutation that causes male infertility discovered by Ben-Gurion university researchers

(American Associates, Ben-Gurion University of the Negev) Profs. Ruti Parvari and Mahmoud Huleihel of the Shraga Segal Department of Microbiology, Immunology and Genetics discovered the mutation in the gene, which normally protects the full DNA sequence in sperm. This mutation inactivates the function of the gene and arrests sperm production. " With the link between this damaged gene and male infertility now identified, specific scans will be available to test for the mutation which will be important for treatment of a couple's infertility, " the researchers say.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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We report the case of a 28-year-old nulliparous female with unexplained infertility who underwent freeze-all vaginal oocyte retrieval. Twenty-one days later she presented with vaginal bleeding (similar to menstruation) and right lower-quadrant pain. The results of ultrasound scanning and a laboratory work-up were consistent with an ectopic pregnancy. She underwent laparoscopic right salpingectomy for a tubal ectopic pregnancy. We recommend sexual abstinence during assisted reproduction to lower the risk of multiple pregnancy and especially of heterotopic pregnancy.
Source: Case Reports in Womens Health - Category: OBGYN Source Type: research
We would like to share our wonderful experience with Drs. Anjali and Aniruddha Malpani. We have just begun our journey of parenthood and are thankful to Dr. Malpani for it. We had been married for 3.5 yrs at the time we met Dr. Malpani. We live in Delhi and had already consulted a few IVF specialists and undergone treatment in Bangalore as per their advice, but we didn't get any success with the treatment. We were very disappointed as it is a physically and mentally exhausting process. We were not sure about what to do next and whether to continue with the same doctor.We got to know about Dr. Malpani through some acqu...
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Source Type: blogs
The biggest nightmare for any IVF patient is that the lab may mix up their eggs and sperms with another patients. This has happened in many clinics, and IVF is as prone to errors as any other treatment because it is provided by a host of people working together – doctors, nurses, receptionist, ultrasonographers, lab technicians and embryologists. It requires lots of coordination, and there are few treatment processes for which a team approach is more important than for assisted reproduction. Close, continuous communication is required at many levels to e nsure everything goes as planned.Communication mattersAll of th...
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Tags: IVF error IVF mistakes Source Type: blogs
This study aimed to assess the incidence of epigenetic diseases with affected imprinting genes in infants or children from pregnancies obtained through IVF/ICSI compared to infants or children from pregnancies obtained spontaneously. PATIENT DATA: This is a monocentric retrospective epidemiological study based on data from a French congenital malformations registry called REMERA (Registre des Malformations en Rhône-Alpes) which exhaustively monitors all pregnancies in Rhone-Alpes region, whatever their nature of onset (spontaneous pregnancies or pregnancies from ART). This registry collects all malformations, ex...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Lots of IVF doctors are very trigger happy, and make a diagnosis which is completely inaccurate. For example, they will do an ultrasound scan for a patient on the fifth or sixth day of the cycle and notice at that time that the follicles are small or the endometrium is thin , and then tell her, "Oh, your thin endometrium means that you most probably have endometrial tuberculosis, and you need investigation and treatment for this." This is plainly ridiculous ! On Day 6, most fertile women will have small follicles , because they haven't started growing yet , as a result of which their estrogen levels are goin...
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Tags: IVF diagnosis IVF misdiagnosis IVF overdiagnosis IVF tests Source Type: blogs
Vaginal ultrasound is an extremely useful tool when evaluating an infertile woman, but it often bothers me because there are some sonographers who over interpret the scan images. Now, I like the fact that they are careful and systematic, and document everything they see by taking lots of images. However, I hate the fact that draw clinical conclusions based on the black and white images they see on the screen - and they shouldn't be doing this.Their reports will say things like, " There are adhesions between the ovary and the uterus"; " There is a 3 cm endometriotic cyst"; the fallopian tubes a...
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Source Type: blogs
Abstract Smoking releases cadmium (Cd), the metal toxicant which causes an imbalance in reactive oxygen species level in seminal plasma. This imbalance is envisaged to impair the sperm DNA morphology and thereby result in male infertility. In order to correlate this association, we performed in vitro and in silico studies and evaluated the influence of reactive oxygen species imbalance on sperm morphology impairments due to smoking. The study included 76 infertile smokers, 72 infertile non-smokers, 68 fertile smokers and 74 fertile non-smokers (control). Semen samples were collected at regular intervals from all t...
Source: Reproductive Biology - Category: Reproduction Medicine Authors: Tags: Reprod Biol Source Type: research
Publication date: Available online 17 April 2018 Source:The Journal of Steroid Biochemistry and Molecular Biology Author(s): Seema Patel Polycystic ovary syndrome (PCOS) is an endocrine disorder, afflicting females of reproductive age. This syndrome leads to infertility, apart from a gamut of other metabolic co-morbidities such as insulin resistance, obesity, cardiovascular problems, including a litany of other health issues. PCOS is a polygenic, polyfactorial, systemic, inflammatory, dysregulated steroid state, autoimmune disease, manifesting largely due to lifestyle errors. The advent of biochemical tests and ultrasound...
Source: The Journal of Steroid Biochemistry and Molecular Biology - Category: Biochemistry Source Type: research
Patients undergoing gender affirming surgery (GAS) from male to female may consider future fertility. However, little is known regarding spermatogenesis potential in these patients treated with estrogen supplementation therapy (EST). Sperm production is androgen dependent, and EST may affect spermatogenesis and maturation. Furthermore, there is scant literature regarding the testicular changes after EST. There is also no published literature assessing the role of testicular sperm extraction (TESE) at the time of GAS.
Source: The Journal of Urology - Category: Urology & Nephrology Authors: Tags: Infertility: Epidemiology & Evaluation I Source Type: research
Diabetes Mellitus (DM) can induce long-term damages, dysfunctions and failures of various organs, including male reproductive system. Previous studies showed the impact of DM on semen parameters, nuclear DNA fragmentation and chromatin quality. Conversely, the association between prediabetes (pDM), a precursor to diabetes characterised by impaired fasting glucose or tolerance, and reproductive function has been scantly analysed. We investigated the risk of prediabetes among men presenting for couple's infertility.
Source: The Journal of Urology - Category: Urology & Nephrology Authors: Tags: Infertility: Epidemiology & Evaluation II Source Type: research
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