Mosaicism in Turner Syndrome

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  • Опубликовано: 23 янв 2025

Комментарии • 12

  • @lisbethraun5320
    @lisbethraun5320 3 года назад +10

    I wasn't diagnosed with mosaic Turner syndrome until I turned 50 (!) - despite idiopathic short stature and absence of puberty. The Danish health care system just didn't care!
    I developed an anxiety disorder and anorexia nervosa when I was 13, and the Danish health care system thought that the anorexia was the cause of my short stature and my absence of puberty. I was hospitalized 12 months because of my anorexia.
    But the low levels of my gonadotropic hormones, such as FSH and LH, were caused by hypopituitarism due to a very small pituitary gland, not by anorexia nervosa.
    I was born as a fraternal (non-identical) twin. I am 20 cm (about 8 inches) shorter than my twin sister (who had a normal puberty and menarche when she was 13).
    I am sure that the undiagnosed and untreated Turner syndrome was the cause of both my anxiety disorder and my eating disorder.
    The lack of diagnosis and of treatment has had a huge and negative impact on my whole life.

    • @nicci337
      @nicci337 2 года назад +1

      so sorry to hear this eating disorders are very common in TS, Its very fortunate they didn't miss a serious heart issue

    • @helenbrett7838
      @helenbrett7838 2 года назад +1

      Lisbeth, I've just been diagnosed at 51! Can we be friends??

  • @KerbalFacile
    @KerbalFacile 2 месяца назад +1

    I'm curious of why you indicate that the intersex form should not refer TS by name ? Aren't the symptoms similar regardless of which second sex chromosome is lost (short stature, puberty issues, asymmetries, torso and neck signs, etc.) ?

  • @MichelleNichols-ju4is
    @MichelleNichols-ju4is 15 дней назад

    I am 42 years old and was diagnosed with 10% mosaic turners syndrome when my mother was still pregnant with me by amniocentesis. What that means is for every 9 normal cells in my body I have one cell that is fully or partial missing the second x chromosome (the sex chromosome). It is only in females and it can be a fluke. I have the wide spaced eyes, the lower and larger ears, and the short stature even though I am taller than most that have it (I am 4ft11). But instead of the narrowing of the aorta valve I have a click in mine that sounds like a squeaky door shutting. Due to TS I was never supposed to start my periods or develop breasts without estrogen shots (not supposed to be able to have children either) or be as tall as I am (even though it's short) without growth hormone shots, but being a child of a military family the military insurance wouldnt pay for them. I was very lucky I started my puberty on my own at 11 yrs old and even though I have had irregular periods ever since I was blessed with an amazing son that is now 15 years old and the best thing I have ever done. Dont get me wrong it was not easy on me, my mother (who was doing it all on her own as a single parent) was always there with me or my six older siblings (yes I'm the youngest of seven children) at home because I was in and out of hospitals seeing specialists and having surgery to correct different things that came with having TS. I've had two brain surgeries (due to front nasal encephalocele), 8 ear surgeries (including an ear drum rupture repair), 2 endoscopic sinus surgeries (including a reconstruction of my upper sinuses), my tonsils and adenoids removed, and wrist surgery to remove a cyst. That was all before 12 yrs old. Even though I have lived with Turner Syndrome my whole life I've always refused to let it defined me or my life. I have worked normal jobs from retail to offices work to being a corrections officer at a county jail. I am the example of dynamite comes in small packges. If you happen to want to learn more about Turners please read the book "Little things come in big packages" (I believe thats the name, but its been years since I've read the book. Or please do your own research on it because it isn't a syndrome that is talked about enough. Sorry for the rambling but i just had to comment on this.

  • @C.D.J.Burton
    @C.D.J.Burton Месяц назад

    Just stumbled here by accident, but I'm gripped already haha.

  • @nahemaibrahim1047
    @nahemaibrahim1047 Год назад

    Hello my daughter was diagnosed with abnormal mosaic female Karotype with an isochromosome for Xq…. Is there information on this type? If is severe? My child doest not have physical appearance of turners and no learning disability

  • @PilgrimPiper
    @PilgrimPiper 4 месяца назад

    My grand daughter (soon to be delivered) is 45X. Thank you for this information. I didn't exactly understand what is meant by "milder appearance". I welcome anyone to answer and help. Thank you

    • @MichelleNichols-ju4is
      @MichelleNichols-ju4is 15 дней назад

      Milder appearance just means someone who doesn't look like the typical turner syndrome female...I myself am one of those that does look like the typical turner syndrome girl.

  • @EmilyHaysisabutterfly
    @EmilyHaysisabutterfly 7 месяцев назад

    I was told by 23 and me that I needed to be tested for turner syndrome. I believe it would be mosiac because I am tall. I did have a 6 pound ovarian tumor when I was 19, and I had my three girls soon after with one ovary. Soon, my other ovary started to fail as well as problems with uterus. I am almost 50, I guess I should talk with my dr. About Dr. Also, related to the turner's and present with more then usual Neanderthal genes. It's quite a coincidence the turners are a family name, yet it's not a heritable condition.

  • @nikolaydimitrov7053
    @nikolaydimitrov7053 Год назад

    Hello,
    My wife is pregnant and we done prenatest which was positive for Turner , but right after that we have done amniocenteses which shows negative.
    Now we thing that it is very possible to be a mosaic , we don`t trust the doctors .. they are all saying completely different things. One says , the amniocenteses is detecting the mosaic as well, the other one says that if cells taken for the amniocenteses may not be turner , but that doesn`t exclude the mosaicism.
    Please , if someone can give us advice in next few days will be appreciated forever!

    • @T1M3ATK
      @T1M3ATK Год назад

      If it doesn't change the outcome of the pregnancy, why worry about it. Prepare your team now before the baby is born and plan for additional testing to be completed.