Secret Revealed, Part 2 | Turner’s Syndrome

I hinted to this issue in a previous post, and I can now share the details with all of you. Alison was diagnosed with a mosaic Turner’s Syndrome in August at age 16.5. This is a very late age to receive this diagnosis as it’s usually caught at or even before birth. Since I was in my mid-20s when pregnant with Ali, an amnio wasn’t even a thought, though. While I did notice something different about features looking at some baby pictures, I never for a moment thought anything like this back then. I had done some research on the internet when she was about 9 or so, and I remember Turner’s triggering something in me. I wondered. Then an evaluation by an orthodontist really started more serious thought. The orthodontist suggested that her features often went hand-in-hand with genetic disorders. I mentioned this to the pediatrician, but it wasn’t met with any urgency by them at the time. That pediatrician then moved and closed her office here, transferring records to another pediatrician farther away. I later switched Ali and Miranda to our own family practitioner (FP) instead.

Fast forward a bit to a later appointment with the FP for immunizations for school. I brought up some “female concerns” with the nurse practitioner and mentioned everything else to date. She is the one who finally got the ball rolling by referring us to a geneticist. The earliest appointment available was three months later, but we finally got an answer! With that answer came a whirlwind of further tests.

A bone age scan showed that her growth plates still had about 6 months or so before closing completely so the endocrinologist recommended growth hormone shots daily at a fairly high dose for six months before starting estrogen replacement therapy (ERT). If she started ERT now, the estrogen would trigger a more rapid closing of the growth plates.

An echocardiogram revealed no coarctation of the aorta. An ultrasound of the renal region showed no kidney abnormalities. Another blood draw confirmed that the ovaries were not triggering sufficient estrogen production; in fact, it was quite low. However, all other possible issues they were looking for in this blood draw were found to be just fine!

All of those things are great, and are part of the reason nothing was physically concerning or alarming all this time. Height is a huge red flag, but on an adjusted growth chart for TS kids, Ali is at the 75th percentile. I am 5’3″, my mother is 5’1″, and her mother was 4’11″ at her tallest. Greg isn’t at the high end of the chart, and neither are his parents. My dad was 6’1″, which could have been her boost in height. The average adult height of a woman with TS is 4’7″. Ali is 4’9.5″ right now. So aside from her height and some subtle facial features, there were no blatant indicators all this time. So if you see photos of girls with TS on the internet and are alarmed by the appearance, just know that none of those features presented on Ali.

So what makes Ali’s case different?

They took the metaphase spread of Ali’s chromosomes and put all the pairs in order 1-23 and then had to take a second, closer look since it wasn’t a classic chromosomal picture of TS. Most cases show only one X chromosome in all cells and that’s all. They found a piece of a Y chromosome (they call it isodicentric) in 5 of 20 cells analyzed. The rest of this explanation is probably just going to be a blur to you, but I’m going to explain it anyway. Her karyotype is: 45,X/46,X,idic(Y)(q11.1) with a full line of other letters and numbers to follow, but that’s the meat of it. A chromosome is made of up two telomeres, the top portion being smaller than the bottom. In the 5 idic(Y) chromosomes found, the full top telomere plus a tiny portion of the bottom telomere of the X chromosome are essentially mirror imaged around that tiny piece of a Y chromosome. How does this happen? No one knows! It could have been nature’s way of trying to correct a mistake and not quite getting it 100% right. It’s interesting to note that 99% of fetuses with Turner’s Syndrome spontaneously abort.

Why did they have to remove the ovaries?

Did you know that ovaries and testes are considered gonads? I know many associate “gonads” with guys only. With that out of the way, these are considered dysgenetic gonads (streak gonads or streak ovaries). Lots of names for the same thing. With this, there is an increased risk of developing germ-cell tumors on the ovaries or gonadoblastoma. Although this is a benign tumor, it can develop into invasive dysgerminoma in 60% of the cases or other malignant forms of germ-cell tumors. Better out than in! Since the ovaries were not performing their duties properly anyway, the decision to remove wasn’t even questioned.

This was indeed the hardest thing to swallow, knowing that she would never have children that were genetically her own. However, the reason they didn’t do a complete hysterectomy is to leave her options open in the future to possibly undergo in-vitro fertilization with a donor egg and carry a baby to term in her own womb! Adoption is always another option. She and her entire family would love none of these babies any less!

This is where we are in such a short period of time since the official diagnosis. The main thing to go through at this point is the growth hormone shots, which she has been giving herself from day one. She has just over 5 more months of those. Then they’ll discuss estrogen replacement.

I tried to pack as much info as I know into as few words as I could manage. I’m sure there will be questions, and I will try to answer them or find the answers to them if I can. Don’t be shy. We would rather you ask than assume from something you may see on the internet.

12/22/10 Edit:

After hearing something that concerned me a bit, I felt the need to add to this post for clarification. It was mentioned that when people hear Turner’s Syndrome, they think of ambiguous genitalia. ABSOLUTELY NOT! Those with the straight karyotype 45,X 46,XY may present with a slightly different package in the nether region. Ali’s karyotype has such a tiny portion of a Y chromosome, they had to take a second look to be totally certain that was what they were seeing. I assure you all that Alison is 100% female in every visible and invisible way! The only thing affected by this was her ovaries. Period.

3/26/11 Edit:

I see a lot of hits on this post as a result of searches on major search engines for “Turner’s Syndrome”. To those just surfing in, please leave a comment and tell me what brought you to search for information on this genetic disorder.

5/24/11 Update:

Nine Months After Diagnosis: Turner Syndrome

9/24/11 Update:

Turner Syndrome | 13 Months After Diagnosis

 

 

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21 thoughts on “Secret Revealed, Part 2 | Turner’s Syndrome

  1. I think Ali is a gorgeous young lady and have always compared her looks to Betty’s Kimmy. They look so much alike in so many of thier pictures. I am so glad the operation is over and she can move forward without worrying about the risk of cancer from them.

  2. My thirteen year old daughter, Autumn, was born with this exact type of Turner’s too. She had her ovaries removed when she was six months old. Until the age of ten she had no major problems, just ear, nose, and throat issues. She has had some strange health issues that have come up since she was ten that are not directly related to Turner’s, at least that’s what the doctor says, but I have my own opinion. We discovered she had nonrotated bowels when she was ten and she had a lad procedure done to correct that. She has had other issues come up with her stomach since then, but we have not been able to get a diagnosis. She recently was diagnosed with having an aortic dilation which can then lead to aortic dissection. This happens in 1-2% of girls with Turner’s. This is the next adventure in our life with Turner’s Syndrome. I’m glad your daughter is doing well. Even though this is becoming harder for me as my daughter gets older and new problems arise, I know that God blessed me with a truly amazing daughter that has a unique quality about her that none of my other children have. We never know why God gives us the challanges he gives us, but he gave us girls that have something special about them that nobody has. Please feel free to email if you have any questions.

  3. Thanks for sharing. I think it is important for us to understand that not everybody is the same. If the picture is Alison, there must be many broken hearts of boys that are sure they could not get the time of day from such a goddess. May she own the world.

  4. I am 28 years old and was diagnosed with Turner’s Syndrome when I was 10. If your daughter or you would like to chat please feel free to contact to me :)
    Best to you and your family!

  5. Yes, you are absolutely right – the search engines picks this post up… Not only for a straight forward TS search but of course also for “45,X/46,XY”. My reason for researching it is simply the death of my son in a late miscarriage a few months back as his chromosomal analysis came back a few days ago with that result. Externally he did not have ambiguos genitalia either though… but he had heartproblems connected to TS and in combination with contracting CMV in utero it was lethal (lets just say we were unlucky enough for the lightening to strike twice in the same place…).

    I congratulate you to your beautiful daughter and as a “mother” through embryodonation (which had absolutely nothing to do with his condition I might add) I can assure you once you have the baby there is no difference at all – neither for parents nor for grandparents. We all loved him very much from the first waving hands on the ultrasound.

  6. My daughter also has turner’s. She was diagnosed at birth and she in now 17 years old. I was mis-informed when she was smaller about growth hormones and what the side affects are, but i am sure they only passed along the information that they had at the time. I am like Ellen, my daugher has a unique quality that other kids her age don’t have and I feel most blessed to have her in my life. She is now taking growth hormone and the doctors think that she has about 2 years of growth left. Of course that places her at age 19 before she can consider estrogen replacement. Can any of you explain a little further about removing the ovaries? This hasn’t been mentioned to me.

    • Are you serious? Definitely bring this up to your endocrinologist. I can’t believe they haven’t mentioned it to you. It was one of their first concerns, along with checking her heart. Ask the doctor about the possibility of streak gonads or streak ovaries. I don’t really have any more of an explanation other than what I wrote in this post and certainly wouldn’t want to give you any wrong information. Ali has now started a low dose of estrogen while still taking the GH shots. This is because the doctor was concerned about her bone density. We have another appointment in September to see if it’s time to stop GH and bump up the estrogen.

  7. Your Ali seems to be receiving the best therapy and other support available. I found this site in my annual hunt for more info about Turner syndrome for my class in Human Genetics, Dept. Biology and Biochemistry, Univ. of Houston, Texas, which is offered twice a year to juniors and seniors among our majors. I spend a full 1 1/2 hr. class discussing this disorder. I noted with special interest the cases you mentioned were mosaics, including your daughter. Years ago it was thought most Turner children were 45,X. More recent research suggests this is the result of sampling errors — not enough cells screened. The indications are that all fetuses truly 45,X only are lost by natural abortion (before live birth), so that all successful live births of Turner’s syn. are in fact mosaics only. This has been known for all the other 22 possible monosomics (45,1, 45,2, 45,3, etc.) for years (except 3 kinds that die as neonates). It seems revealing that Turner syn. is now coming in line with this well-known generality. What can you or any of your readers say about the accuracy of this note? Keep in mind a large number of cells must be karyotyped, taken from several parts of the body, to give reliable results by current standards of karyotyping Turner syndrome.
    Dr. Philip J. Snider, Geneticist, 8-9-2011

    • Thank you for your note! Though I only know what I’m learning along the way, I believe your comments to be very accurate. I can’t put it into correct technical terms, but I think there are many people walking this earth with chromosome “abnormalities” that don’t even know it.

  8. As a psychology major in college, I remember Turner’s being reviewed briefly. But I heard it again mentioned in a Law & Order episode. I was deeply confused because as far as I recalled, some things in the episode were correct, but people with TS weren’t know to look “young”.
    Turns out the episode was based off a rare version of Turner’s called Mosaic Turner’s that I had never heard of. Still knowing that, the details were very much off, but I’m guessing they simplified the disorder for the average viewer not to be confused, and make a good drama episode out of the girl’s “youthful look” making her perfect and legal target for pedophiles.

    • Many people judge people to be younger if they’re shorter than average, too. Other genetics have a lot to do with you a person ages (early wrinkles and such). In our case, we’ve got the double-whammy there. So there is classic Turner’s and there are many variations when you get into the mosaics. It’s not just one or the other. It’s the unique kareotype that makes all the difference in each case. TV shows get many things wrong. :D They carry off the basic ideas ok, but they’re always severely lacking in details. As a photographer, I also notice the cheap cameras and gear they have their extras use when playing the part of reporters or paparazzi. Cracks me up every time!

  9. Shame on you for having your daughter take growth hormones. I am a woman 4’10″. People should be allowed to remain short if that’s what they naturally are – instead of having their natural appearance annihilated to make them more socially acceptable looking. Yes, it’s difficult to be this small. But it will be even more difficult for the ones who are this size when they become even more of a minirity due to many short people taking hormones and becoming taller.

    • Thank you for your input. Do you have TS? Please forgive me for not feeling the shame you wish upon me, however. My daughter was just shy of 17 and old enough to help with the decision to use growth hormones. It was also her decision when to stop taking them, even though the doctor thought she could “benefit” from taking them a while longer. She is 4’11 1/2″ now and content with that. She’s almost 20 now and drives a moderate sized car without having to sit on a booster seat or add blocks to her pedals. She realizes that there is a lot of short stature naturally in our family. I’m 5’3″ (when I stand up super straight), my mom is 5’1″, and her mom was only 4’11″ before osteoperosis brought her down to her current 4’7″.

      The growth hormone she took was to replace what her body was not producing naturally. Should a person with high blood pressure not take medication to control it? Should a person with poor vision not wear glasses? She is now taking the pill to supplement her body with the necessary estrogen and progesterone. Should she not take that, either?

      She just read this over my shoulder and basically said, “Shame on her for judging someone else for making such a decision.” Well said, my love! She is not seeking approval from anyone but rather making decisions she feels are right for her body and her health. So again, we appreciate your bold opinion but refuse to be shamed.

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