February 21, 2018

A less-productive-than-usual journal club

Sometimes, you go shopping with the intention of bringing home a very specific item. Sometimes you go to the mall just to see what’s out there. There’s a similar principle for doctors when they pursue continuing education within their field. Sometimes, I’ll encounter a patient with a specific unique story that drives me to look up information regarding a certain topic. Other times, I’ll go to a conference or meeting just to see what’s out there. The interesting thing about this is that it makes me almost afraid to miss a meeting due to the concern that if I don’t go, there might be something crucial that I miss out on that would have enabled me to improve a patient’s outcome.

This week, I went to my monthly UCLA REI Journal Club dinner. It was tempting to skip it as I had just completed a recent span of time where I went out of town three time in less than five weeks and could have spent the evening either catching up on administrative matters or on relaxing and exercising. However, I chose to go anyway. Part of the reason was the desire not to miss anything.

Our first topic of discussion was the use of intravenous immunoglobulin (IVIG) in the treatment of recurrent miscarriage. After discussion of a randomized multi-center study, the general consensus was that it didn’t do any good. There were about 9 of us RE’s there, some in private practice and some in academic programs. Also in attendance were two urologists, about six current REI fellows, some alternative-medicine practitioners and a few people from the pharmaceutical industry. One way that going to journal club beats just staying home and reading the articles is the chance to hear stories from each doctors’ practice. It would have been awesome if IVIG actually worked universally to lower the risk of recurrent miscarriage, but the data from the study as well as the data from our own clinical experiences suggested otherwise.

The second article talked about a study where sperm was genetically tested via a method called FISH analysis. Then the fertilized embryos were studied genetically as well to see if patients with a preponderance of abnormal sperm were likely to make a preponderance of abnormal embryos. To me, it didn’t have any practical clinical application. The other doctors agreed and nobody claimed to regularly use sperm FISH analysis in their practice. One of the urologists in attendance was the most vocal about this. However, I did take the opportunity during discussion time to bring up one of my patients for whom we did preimplantation genetic screening to check the embryos for gender. Astoundingly, 13 out of 13 embryos were “female”, either a normal 46,XX or some abnormal variation, but which did NOT contain any Y-chromosome material. We got into an interesting debate on whether or not there are men out there who only produce X-bearing sperm or who only produce Y-bearing sperm and the general consensus was this was not biologically possible.

The third article was about women with a specific genetic enzyme defect called Congenital Adrenal Hyperplasia and what implications this had on their general fertility. Women with CAH had the potential of getting virilization of their external genitalia if the condition was left untreated. The conversation quickly deteriorated when one of the RE’s brought up a political debate regarding a group of feminist activists who protested parents treating their daughters with this disease espousing the view that they were interfering with natural sexual development. In other words, there are some baby girls who are born with a genetic condition that if left untreated, would tend to make them develop more masculine features. Believe it or not, there are actually women out there who protest the practice of treating these daughters in that they believed the choice should be left up to the patient (the little baby) whether or not they want to be more masculine, rather than force them to conform to society’s view of expected femininity. Most of us thought this was quite silly.

Finally, the last article discussed the incidence of mosaicism in non-human primates. Mosaicism refers to an individual having cells that have different genetic makeup as opposed to the general expectation that all the cells in our bodies have the same genetic code. This is critical for purposes of deciding PGS strategy where we pluck one or more cells from an embryo in order to determine the genetic makeup. Mosaicism would throw this for a loop because what if the cell that we plucked was different and not representative of the embryo as a whole. Anyway, we wrapped up the night by discussing the current shortcomings of doing PGS.

Sometimes I leave this journal club and take home many precious nuggets of knowledge that will greatly help me take better care of my patients. This month was not one of them. Oh, well.

  • microbiologychick

    I am a feminist and a scientist. Most of the debate I have heard on CAH and other intersexed conditions is not about hormone treatments but about genital surgery on infants. Don’t some of the procedures involve cutting down an enlarged clitoris? I would agree with hormone treatments to prevent or stop enlargement, but surgery seems too extreme for a baby. I think some intersexed people have come out and said they have no genital sensitivity at all due to these surgeries.

  • IVF-MD

    Thanks for the feedback. My understanding is that there are different cases involving different parents and babies. I agree with you and see a big difference between refusing to allow your baby mild steroids and refusing to allow major surgery which involves genital mutilation. It’s an interesting ethical question of who owns the rights to their body, a baby or her parents. The hormonal therapy is time-dependent and withholding it until the child is old enough to make a decision would take away many options. To my best understanding, the clitoral removal can be done early or late and there are some ethical advantages to wait until the child is of an age to decide. Interesting controversy and thanks for enlightening me. If you have any links for readers to get more information, please feel free to post.

  • microbiologychick

    Thank you, IVF-MD.

    The Intersexed Society of North America’s position:

    The CARES foundation specifically for CAH:

    The controversy over prenatal treatment of CAH:

    The controversy over a doctor who performed clitoroplasty and tested the remaining sensitivity using vibrators:

  • Rachel

    Agree with the comment above. Medical/hormonal treatment is one thing, surgical treatment is quite another, particularly when that treatment is more oriented towards producing “normal”-appearing genitalia than producing functional genitalia.

    Medical science has a very poor track record regarding their treatment of intersexed individuals. If I were faced with making decisions for a child, I’d be more inclined to trust the wisdom of grown-up intersexed people. I’m too aware of the history of the medical profession in this arena (I am @ Johns Hopkins, where we have a particularly grim list of sins).

  • http://thedocsquawk.com thedocsquawk

    My high school finite class tells me that if the probability of achieving a female embryo is approximately 0.5, having 13 female embryos (ignoring the fact there were aberrant ones) would be 0.000061. So in 100,000 patients, there would be 6 people who would have 13 female embryos.

    There are men who were phenotypically male but genotypically female http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1468937/?page=1
    but I was under the impression that they are sterile.