Genetic mutations may be linked to infertility, early menopause

A new study from Washington University School of Medicine in St. Louis identifies a specific gene’s previously unknown role in fertility. When the gene is missing in fruit flies, roundworms, zebrafish and mice, the animals are infertile or lose their fertility unusually early but appear otherwise healthy. Analyzing genetic data in people, the researchers found an association between mutations in this gene and early menopause.

The study appeared in the journal Science Advances.

The human gene, called nuclear envelope membrane protein 1 (NEMP1), is not widely studied. In animals, mutations in the equivalent gene had been linked to impaired eye development in frogs. The researchers who made the new discovery were not trying to study fertility at all. Rather, they were using genetic techniques to find genes involved with eye development in the early embryos of fruit flies.

“We blocked some gene expression in fruit flies but found that their eyes were fine,” said senior author Helen McNeill, PhD, the Larry J. Shapiro and Carol-Ann Uetake-Shapiro Professor and a BJC Investigator at the School of Medicine. “So, we started trying to figure out what other problems these animals might have. They appeared healthy, but to our surprise, it turned out they were completely sterile. We found they had substantially defective reproductive organs.”

Though it varied a bit by species, males and females both had fertility problems when missing this gene. And in females, the researchers found that the envelope that contains the egg’s nucleus — the vital compartment that holds half of an organism’s chromosomes — looked like a floppy balloon. “It’s interesting to ask whether stiffness of the nuclear envelope of the egg is also important for fertility in people,” McNeill said. “If you have a softer nucleus, maybe it can’t handle that environment. This could be the cue that triggers the death of eggs. We don’t know yet, but we’re planning studies to address this question.”

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Join the #CYSTERHOOD to support PCOS Awareness

The PCOS Awareness Association is promoting Polycystic Ovarian Syndrome Awareness Month this September with virtual events all month long. The organization also encourages you to follow them and promote them on your social media platforms with a variety of graphics to help promote PCOS education and raise awareness for issues related to all things Polycystic Ovarian Syndrome, and to donate money to support this cause.

Join the #CYSTERHOOD at pcosaa.org.

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RSCNJ Supports PCOS Awareness Month

Polycystic Ovary Syndrome (PCOS) is a common hormone disorder in women that is also the leading cause of female infertility. September is recognized as PCOS Awareness Month–a time for all of us to promote understanding of one of the most underdiagnosed diseases in the world.

According to WomensHealth.gov, 10% of women of childbearing age suffer from PCOS, but fewer than 25% of these women are diagnosed.

PCOS is characterized by three common characteristics: irregular or absent periods, excess androgens (elevated testosterone and androstenedione levels) and multiple cystic areas on the ovaries.

There is currently no cure for PCOS. However, Reproductive Science Center of New Jersey offers a few treatment options for women with PCOS who want to get pregnant. To learn more, listen to this podcast with Dr. Alan Martinez, who discusses PCOS and its treatment.

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Our patient felt ‘comfortable and confident’

Tam, a patient at RSCNJ, had this to say about her treatment:

“I recently had a surgical procedure and felt comfortable, and confident, with Dr. Ziegler. All the details were thoroughly explained, I was able to ask any questions and never felt rushed in any way. With COVID I had limited time in the office, but the correspondence through the phone and email were easy and pleasant. I would highly recommend their services to any woman looking for medical care.”

Our thanks to Tam, and to everyone who posted reviews of our care.

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Sperm quality lowered by light from devices at night

Men might want to think twice before reaching for their smartphone at night. A new study found correlations between electronic media use at night and poor sperm quality.

Preliminary results show that greater self-reported exposure to light-emitting media devices in the evening and after bedtime is associated with a decline in sperm quality. Sperm concentration, motility and progressive motility­–the ability of sperm to “swim” properly­–were all lower, and the percentage of immotile sperm that are unable to swim was higher, in men who reported more smartphone and tablet usage at night.

“Smartphone and tablet use in the evening and after bedtime was correlated with decline in sperm quality. Furthermore, smartphone use in the evening, tablet use after bedtime, and television use in the evening were all correlated with the decline of sperm concentration,” said principal investigator Amit Green, PhD, head of research and development at the Sleep and Fatigue Institute at the Assuta Medical Center in Tel-Aviv, Israel. ”

The study also found a correlation between longer sleep duration and higher sperm total and greater progressive motility. In contrast, greater sleepiness was associated with poorer sperm quality.

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PCOS Awareness Month events

PCOS Awareness Month, a federally designated event, occurs every September. PCOS Challenge: The National Polycystic Ovary Syndrome Association is the sponsoring organization for PCOS Awareness Month and offers supporting resources, information and events. The aim of PCOS Awareness Month is to help improve the lives of those affected by PCOS and to help them to overcome their symptoms as well as prevent and reduce their risks for life-threatening related conditions.

Events include:

  • World Unity Day
  • Lighting Events
  • Virtual 5k run/walk
  • PCOS Symposiums
  • Virtual gala and awards ceremony

Learn more about these events at PCOSAwarenessMonth.org.

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Be aware: September is PCOS Awareness Month

Polycystic ovary syndrome, or PCOS, is a serious genetic, hormone, metabolic and reproductive disorder that affects women and girls. It is the leading cause of female infertility and a precursor for other serious conditions, including obesity, type 2 diabetes, cardiovascular disease and endometrial cancer.

Every September, PCOS Awareness Month–a federally designated national event–strives increase awareness of, and education about, PCOS among the general public, women, girls and healthcare professionals. PCOS Awareness Month aims to help improve the lives of those affected by PCOS and to help them to overcome their symptoms as well as prevent and reduce their risks for life-threatening related diseases such as diabetes, cardiovascular disease, nonalcoholic fatty liver disease and cancer.

The National Polycystic Ovary Syndrome Association, the sponsoring organization for PCOS Awareness Month, offers supporting PCOS resources, information and events. Please check them out and help spread awareness about PCOS in September.

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Stacey is ‘very happy’ with RSCNJ and Dr. Ziegler

Our patient Stacey recently posted these comments about her care at RSCNJ:

“I am very happy with Reproductive Science Center and especially Dr. Ziegler. They are amazing and my surgery went very well. If you ever need a reproductive endocrinologist I recommend him.”

Thank you, Stacey, and thanks to every one of our patients who posted reviews of our care and services. You can read more of them at our web site.

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Opioid use linked to pregnancy loss, lower chance of conception

Opioid use among women trying to conceive may be associated with a lower chance of pregnancy, suggests a National Institutes of Health study. Moreover, opioid use in early pregnancy may be associated with a greater chance of pregnancy loss. The study appears in Epidemiology.

“Our findings indicate that women who are pregnant or planning a pregnancy should, along with their physicians, consider the potential effects opioids may have on their ability to conceive or sustain a pregnancy,” said Kerry Flannagan, Ph.D., the primary author of the study and a postdoctoral researcher in the Division of Intramural Population Health Research at NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.

According to the authors, much of the research on prescription opioid use has focused on the effects of drug dependency. Little information exists on non-habitual, periodic opioid use around the time of conception and early in pregnancy.

The researchers analyzed data from the Effects of Aspirin in Gestation and Reproduction (EAGeR) trial, which investigated low-dose aspirin as a treatment to prevent pregnancy loss. Participants were women from 18 to 40 years old with a history of one or two pregnancy losses.

Opioid use before conception was associated with a 29% lower chance of achieving pregnancy during a given monthly cycle, compared to women who had not used opioids. Among the women who became pregnant, those who used opioids around the time of conception were 1.5 times as likely to have a miscarriage as women who had not. Women who used opioids in the first four weeks of pregnancy were more than twice as likely to have a miscarriage. Women who used opioids in weeks four through eight of pregnancy were 2.5 times as likely to have a miscarriage.

The authors said that until more is known, patients and physicians should evaluate the potential risks and benefits of opioids for pain management among women who are pregnant or may become pregnant, including those undergoing assisted reproduction procedures that may involve opioid treatment to manage pain.

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How to talk with your boss about fertility treatments

More than 400 U.S. businesses help cover the cost of fertility treatments, according to an article on Forbes.com. It’s important to understand what your company policy covers, how to access those benefits and whether you need to discuss your treatments with your manager or coworkers, according to author Lisa Rabasca Roepe.

She spoke with Amy Klein, author of “The Trying Game: Get Through Fertility Treatment and Get Pregnant without Losing Your Mind,” about Klein’s four years of fertility treatments. It is an interesting story, which you can read at Forbes.com.

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