Link found between cryptorchidism and genetic mutations



Researchers from Case Western Reserve University and Yale University have made a significant advancement in understanding the cause behind why some pregnant women suffer from inflammations in the inner womb without any signs of an infection. Using gene-cloning techniques, researchers discovered that approximately 60 percent of the bacteria present in women with intra-amniotic inflammations were

Full Post: Bacteria discovered in amniotic fluids of women who undergo preterm birth

A small percentage of males born with cryptorchidism (failure of one or both testicles to descend into the scrotum), the most frequent congenital birth defect in male children, are more likely to have genetic mutations, including for a syndrome that is a common genetic cause of infertility, according to a study in the November 19 issue of JAMA, the Journal of the American Medical Association.

Cryptorchidism occurs in 2-4 percent of full-term male births. “Although cryptorchidism is often considered a mild malformation, it can seriously affect men’s health, representing the best characterized risk factor for infertility and testicular cancer in adulthood,” the authors write. The cause of cryptorchidism remains mostly unknown.

Alberto Ferlin, Ph.D., of the University of Padova, Italy, and colleagues conducted a study to examine the frequency of genetic alterations in cryptorchidism. The study included 600 male infants with cryptorchidism, who were followed up for 2 to 3 years (through January 2008), and 300 male children who did not have cryptorchidism as controls.

The researchers found that the overall frequency of genetic alterations in boys with cryptorchidism was low (17/600 [2.8 percent]) and was statistically significantly higher than controls, both among children with persistent (since before birth) cryptorchidism (16/303 [5.3 percent] vs. 1/300 [0.3 percent] in controls) and among those with bilateral (both testes) cryptorchidism (10/120 [8.3 percent]). Children with persistent cryptorchidism had 17 times the odds of having a genetic alteration; the odds were 27 times higher for boys with bilateral persistent cryptorchidism.

The most common genetic findings in those with cryptorchidism were eight cases of Klinefelter syndrome (a chromosome condition that is the most common genetic cause of male infertility) and five cases of mutations in the INSL3 receptor gene (a regulator of testicular descent). When considering birth weight and gestational age, genetic alterations were found exclusively in those with normal weight and gestational age.

“We found that chromosomal aberrations represent the most frequent genetic alteration in participants with isolated cryptorchidism, particularly in those with persistent cryptorchidism (1.6 percent in the unilateral forms and 4.2 percent in the bilateral forms), and that chromosomal alterations were exclusively represented by Klinefelter syndrome,” the authors write.

“In this study, we found genetic alterations in a small percentage of boys with cryptorchidism. We found a significant association between bilateral and persistent cryptorchidism and genetic alterations, including mutations in the INSL3 receptor gene and Klinefelter syndrome. Genetic alterations were not found in participants with low birth weight or low gestational age ?”

http://jama.ama-assn.org/

Link




Writing in this week’s Journal of the American Medical Association , UC Davis M.I.N.D. Institute researchers urge physicians to test for mutations of the fragile X gene in patients of all ages. That’s because, after decades of research, it is clear that mutations in this gene cause a range of diseases, including neurodevelopmental delays and

Full Post: Researchers urge physicians to test for fragile X gene mutations in patients of all ages



A review of previously published studies suggests that rates of adverse outcomes for mothers or pregnant women and newborn babies, such as gestational diabetes and low birth weight, may be lower after bariatric surgery compared with pregnant women who are obese, according to an article in the November 19 issue of JAMA, the Journal of

Full Post: Risk of maternal and newborn complications may be lower after bariatric surgery



A Newcastle University study involving thousands of families is helping prospective parents work out whether they are likely to have sons or daughters. The work by Corry Gellatly, a research scientist at the university, has shown that men inherit a tendency to have more sons or more daughters from their parents. This means that a

Full Post: Men inherit tendency to have more sons or more daughters from their parents



Repeated miscarriages and hormone treatment for infertility give an increased risk of pre-eclampsia among pregnant women. This comes from a new study from the Norwegian Institute of Public Health. More than 20 000 first-time mothers from the Norwegian Mother and Child Cohort Study (MoBa) were included in the study. Normal risk First-time mothers

Full Post: Repeated miscarriages and hormone treatment for infertility increase pre-eclampsia risk



According to the Vatican’s official newspaper, the contraceptive pill is a major cause of male infertility in the West and is also polluting the environment. An article in L’Osservatore Romano claims there is substantial evidence available to show that the environment is being flooded with synthetic female hormones because of widespread use of oral contraceptives

Full Post: Vatican blames the Pill for environmental pollution