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.
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.
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.