Klinefelter (XXY) & Turner Syndrome (Gonadal Dysgenesis) - Pediatric Genetics | Lecturio

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  • Опубліковано 8 лют 2025

КОМЕНТАРІ • 112

  • @lisbethraun5320
    @lisbethraun5320 3 роки тому +58

    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, 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.

    • @anuyah.s7172
      @anuyah.s7172 2 роки тому +4

      oh my god , im so sorry to hear that the health care system did not conduct further tests and checkups on you. How can they just dismiss it off like that. No one deserves to be treated like that , Its shitty , more over such neglect from a ''health care'' system. what are these people doing , how can they be so ignorant. I am so sorry you had to go thru that. I hope you are doing well and i wish you well.

    • @kimrose80
      @kimrose80 Рік тому +3

      I’m sorry your Turner’s syndrome was neglected by doctors 😠 I have a similar story..
      I’m now 42 and have stunted growth because of untreated hypothyroidism growing up..
      For cosmetic reasons I wanted to be evaluated for short stature as a teenager and was found to have hypothyroidism by the pediactric endo in 1996 but they didn’t think it was bad enough to treat even though my TSH was clearly elevated and my growth hormone was a little low they said..🤦‍♀️
      I also have low LH and FSH and had delayed puberty..I am just now seeing an endocrinologist who I hope will address all this..Ive already had one appt so far and he pointed out right away my short stature and how I was barely 5 feet tall..😏
      It was hard growing up and being the shortest one in the class and all the comments I got and I was always very fatigued and felt less attractive then the other girls who developed normally..

    • @parkerschnabel5529
      @parkerschnabel5529 Рік тому +1

      Das tut mir sehr leid für dich. Manche Ärzte sind inkompetent und unwissend...

  • @binbinky78
    @binbinky78 4 роки тому +10

    best lecturio instructor so far

  • @Viv8ldi
    @Viv8ldi 4 роки тому +42

    My collegue has klinefelter Syndrom, his mother got him when she was older (because of her job as a doctor) and he is veryy tall and infertile. However he finished university, so he as no educational issues.

  • @kieshaannpetersen9854
    @kieshaannpetersen9854 2 роки тому +3

    Thank you, the information you have provided is like gold.

  • @BebeesHuman
    @BebeesHuman Рік тому +3

    Yep. Having an extra chromosome OR being short a chromosome is a challenge. A lot can be done to improve the situation, so go for it!!

  • @Charlizzie
    @Charlizzie 4 роки тому +30

    Great example of XXY: Colt Johnson of 90 Day Fiancé.

    • @althaz8623
      @althaz8623 3 роки тому +4

      😂💀

    • @max-3158
      @max-3158 3 роки тому

      I just searched him. Lol

    • @onyxtanner705
      @onyxtanner705 3 роки тому +1

      I dont mean to be so offtopic but does anybody know of a tool to log back into an Instagram account??
      I was stupid lost my account password. I would appreciate any tips you can give me!

    • @jaxxgianni1008
      @jaxxgianni1008 3 роки тому

      @Onyx Tanner Instablaster ;)

    • @onyxtanner705
      @onyxtanner705 3 роки тому

      @Jaxx Gianni i really appreciate your reply. I got to the site on google and Im in the hacking process atm.
      Seems to take quite some time so I will get back to you later with my results.

  • @lolylu8168
    @lolylu8168 5 років тому +7

    Best possible option for studying and USMLE preparation!

  • @joemarlett8590
    @joemarlett8590 Місяць тому

    Thank you.
    Great explanation

  • @politie98765432198
    @politie98765432198 4 роки тому +12

    I think my little brother has it, he is 10 cm's taller then me and my 2 othee brothers he has alot of fat on his hips and very little muscle also the only one of the sibblings without chest hair and beard (he is 18 but when we were 18 we all had a beard and body hair). how do you diagnose this my parents say there is nothing wrong with him but i honestly think he has kinefelter syndrom

  • @latadubey7578
    @latadubey7578 Рік тому

    Its so informative ❤

    • @lecturiomedical
      @lecturiomedical  11 місяців тому

      Thank you for your comment! If you enjoyed the video, don't forget to subscribe and turn on notifications to stay updated with all our UA-cam videos. 🤗 Additionally, for more learning opportunities, we invite you to sign up here and explore even more of our free content, along with all the study features that can help you ace your exams: lectur.io/freecontentyt

  • @vanirampersad794
    @vanirampersad794 4 роки тому +2

    great lecture

  • @michaelstephens1808
    @michaelstephens1808 4 роки тому +10

    I have KFS and I’m 66

  • @Viv8ldi
    @Viv8ldi 4 роки тому +9

    My collegue has klinefelter Syndrom, his mother got him when she was older (because of her job as a doctor) and he is veryy tall. However he finished university, so he as no educational issues.

    • @priyanshupaswan1840
      @priyanshupaswan1840 3 роки тому +2

      So Your Collegue had also Female Looking Body like Gyeno (Male Boob's) and has Wider Thies and Hips like Most Girls Have??
      Please Tell Me Because I Have all These Symptoms

    • @unknown3.3.34
      @unknown3.3.34 Рік тому

      @@priyanshupaswan1840 you did test bro?

    • @stevencostin4401
      @stevencostin4401 6 місяців тому

      My klinefelters syndrome was found when having a check over for cancer, I was 64 years old, I'm now 76 years old now, but now on top of KS, I've got now Asperger syndrome, in my 60s & 70 years trying to adjust to life, I didn't know people can be very cruel, I got married the worst mistake of my life, you trust people, I was living with mum & dad most of my life, both died, I tried to kill myself, then I met a woman of my dreams, but I hadn't had sex with anybody, 5 years on I lost my home & 90% of my savings, then made homeless, I have a partner now, I'm still struggling with life, she was a teacher so she understands most of my problems, i live in Southampton in UK life is a lot better now, although my KS has left me with medical issues, ❤ to all with KS & Asperger syndrome

  • @gatluakbangbidit4730
    @gatluakbangbidit4730 3 роки тому +2

    thank you for your help us keep it up i like the way you do

  • @nicolem.a.7650
    @nicolem.a.7650 4 роки тому +2

    Thank you very much Sir for the video
    it was helpful!!

  • @zovjraar
    @zovjraar 4 роки тому +16

    I'm 4'11", can confirm being short is hard. And no, I don't have Turners. I can drive a car just fine, but I can barely reach the kitchen cabinets. 😒

  • @orvos1459
    @orvos1459 Рік тому

    Can you have some (but not all) of the Klinefelter symptoms in men?

    • @TallDiana
      @TallDiana Рік тому +1

      My husband had Kleinfelter’s, and yes, the symptoms mentioned in this video are only possibilities. My husband had all the features and symptoms on the list, except educational problems.

    • @lecturiomedical
      @lecturiomedical  Рік тому +3

      Yes, it is possible for individuals with Klinefelter syndrome (XXY) to exhibit some, but not all, of the associated symptoms. Klinefelter syndrome is a chromosomal disorder that occurs in males when they have an extra X chromosome, resulting in a karyotype of 47,XXY instead of the typical 46,XY. The specific symptoms and their severity can vary among individuals with Klinefelter syndrome.

  • @DK-survival
    @DK-survival 3 роки тому +2

    Its so expensive to get the blood work done...

  • @amyfarwa6005
    @amyfarwa6005 3 роки тому

    Thank you Dr.

  • @BNBKids
    @BNBKids 4 роки тому +1

    Thank you sir..

  • @franzjosephaque2066
    @franzjosephaque2066 2 роки тому +3

    Klinefelter Syndrome is hypergonadism and Kallman Syndrome is hypogonadism and Turner Syndrome is absent of period they are rare genetic disorders that are not inherited.
    They happen randomly.

  • @feeltheeffect85
    @feeltheeffect85 6 місяців тому

    I have every symptom but my Karoytoe was 46XY male.

  • @bouffant-girl
    @bouffant-girl 9 місяців тому +1

    I have Klinefelter Syndrome, and my mother had Turner Syndrome

    • @lenkasabyasachi29
      @lenkasabyasachi29 7 місяців тому

      So your mother had Turner syndrome and no issues with fertility and height? please let me know as today my sister's diagnosis came out and she has Turner syndrome

  • @andreasnts1333
    @andreasnts1333 3 роки тому

    Thank you !

  • @عليصالح-ط1ج1ن
    @عليصالح-ط1ج1ن 3 роки тому

    Thank you

  • @pearlparrot394
    @pearlparrot394 2 роки тому +2

    My brother he is 20 have this problem any treatment is available?? Pls tell me doctor

  • @MrMamakara
    @MrMamakara 4 роки тому +1

    thanks alot

  • @melanphilia
    @melanphilia 3 роки тому +2

    What about new research showing how hormone replacement therapy can increase certain Cancers in females?

    • @Tuner9069
      @Tuner9069 2 роки тому

      TRT was discovered to cause cancer and infertility in men back in the early 2000's (pre-2010). All synthetic hormones cause cancer and infertility (both men and women).

    • @dnnnforfordnnn7838
      @dnnnforfordnnn7838 2 роки тому +1

      It's all about managing the pros and cons with hormone therapy. Hormone therapy increases the risk of certain cancers in females but if hormone therapy can (and usually does) improve the life of a patient, it is almost always given but with monitoring in order to detect any pre-cancerous lesions.

  • @rashmikumari9644
    @rashmikumari9644 4 роки тому +4

    I gt one question...plz ans ....does genetic mutation affect only 1 part of body .....or the whole body or both.....sir plz ans

    • @LiaLoredoPaz
      @LiaLoredoPaz 4 роки тому +4

      I doubt they will answer. But genetic mutation, depending on the chromosome affected, can attack one specific organ and its function, by affecting only the composition of the amino acids and structure of DNA; in other cases, it's not as visible as a Down's Syndrome (trisomy 21) or Turner's Syndrome, because some genetic mutations don't even affect parts of our body in a phenotypical way (a matter that you can see externally in a human's body) but rather internally (genotype).
      God bless ya! Wishing everyone the best immune cells during the worldwide quarantine ✊😊

  • @Khaled-io9bz
    @Khaled-io9bz 5 років тому +4

    Thank you for your effort

  • @ad7197
    @ad7197 4 роки тому +11

    I have wider hip than my shoulder and very long legs etc.
    But the only thing is my testicle is larger

    • @di1046
      @di1046 4 роки тому +5

      Hi my brother, me too have wider hip and long legs ..etc but my testicle is larger
      Did you have a blood test?

    • @ad7197
      @ad7197 4 роки тому +1

      @@di1046 no bro

    • @tims7686
      @tims7686 4 роки тому +5

      Its over for me, never going to be attractive with wide hips and narrow shoulders as a guy, i think ill just rope soon. Life is unfair. And i dont even think i have this syndrome, probably just worst bone structure. I am such a subhuman. Always crying like a little girl because of my body frame. I mean.. narrow shoulders - okay, i dont mind, its fine, but wide hips... Just why i got it? Its sexual dimorphic trait to have narrow hips since you not gonna give a birth to child, why would a male have wide feminine hips? Id like to cut my lower body to never see this hourglass figure again

    • @ad7197
      @ad7197 4 роки тому +2

      @@tims7686 bro can you contact me?

    • @tims7686
      @tims7686 4 роки тому +2

      @@ad7197 sure, whats ur discord/email?

  • @prettyfly4xxy
    @prettyfly4xxy Рік тому +2

    Images and language used to describe XXY people is dreadful. The presenter doesn’t say at the start that XXY is a SPECTRUM and affects individuals differently. I am so tired of seeing outdated content like this 😢

    • @leena-i4
      @leena-i4 Місяць тому +2

      i know right i dont have obesity and i have kind of normal hair growth and im 16 and have klinefelter

  • @j.b.4340
    @j.b.4340 Рік тому +1

    @1:35, I’m built exactly like that.

  • @haya8822
    @haya8822 4 роки тому

    Love it ❣️

  • @DarkMonster771
    @DarkMonster771 3 роки тому +1

    So is the presence of a y chromosome always equal a male?

  • @Viv8ldi
    @Viv8ldi 4 роки тому +13

    my collegue who has turner syndrome said the testosterone he received made him so aggressive that he started to yell at his wife. After that happened, he stopped taking it.

    • @purdyladie155
      @purdyladie155 4 роки тому +18

      No male has turners

    • @fantasticfrances
      @fantasticfrances 3 роки тому +3

      @@purdyladie155 it literally said in the video that make patients can have mosaic turner’s syndrome

    • @purdyladie155
      @purdyladie155 3 роки тому +4

      @@fantasticfrances x/ xy male mosaics are not the same as females with Turner Syndrome . Its not the same exprience . He also did not mention there is a rare case of XXY 47 female , probably because he recognizes its not the same as having klinefelters . They shouldnt be classified the same its different .

    • @fantasticfrances
      @fantasticfrances 3 роки тому

      @@purdyladie155 well based on that either the person who made the original comment is confused or their brother is a trans man who has turners syndrome 🤷‍♀️

  • @c.m.p.tipstricksstudy7150
    @c.m.p.tipstricksstudy7150 2 роки тому

    Yadi kisi me x chromosome extra hai to uska treatment ho skta ki nhi

  • @KavitayeinKahaaniyaan
    @KavitayeinKahaaniyaan 3 роки тому

    I am 5 feet,150 cm,I have brachymetatarsia
    Is there any possibility I have mosaic TS?
    Had two miscarriages in past..8 weeks and 14 weeks

  • @MTB-cq5cy
    @MTB-cq5cy 2 роки тому

    So if it's xy normal male. xx normal female. xxy KF male. X turner female

  • @ohboy111
    @ohboy111 8 місяців тому

    Any turner patient here? lets be frnd [from kinefilter patient( may be)]😅

  • @unkowntheelement9774
    @unkowntheelement9774 3 роки тому

    What happens if you split the the x and the y chromosomes it will be better

  • @lovelybhandari9293
    @lovelybhandari9293 5 років тому +2

    Is it possible to female body

    • @amj.composer
      @amj.composer 5 років тому +12

      What

    • @anthonyy1790
      @anthonyy1790 5 років тому +20

      Never not once is it possible to female body

    • @MissSpaz
      @MissSpaz 5 років тому +2

      @@anthonyy1790 Thank you. I was about to say how female body is impossible. This is an obvious fact.

    • @loveandletlove8529
      @loveandletlove8529 4 роки тому +1

      Well if the y chromosome is dormant or simply the sry gene is not working....or if they undergo srs.

    • @donotsupportterroristgroups
      @donotsupportterroristgroups Рік тому +1

      "Is it possible to female body"
      It's been 4 years since that was posted and it makes no sense, there was plenty of time to correct it to make it make sense.

  • @ShirleyCaldwell-y6v
    @ShirleyCaldwell-y6v 5 місяців тому

    Kulas Track

  • @haleydoe2279
    @haleydoe2279 2 роки тому +1

    Umm, I am 4'10" and I can drive a car just fine, and due to my cat-like reflexes, knocking things down from tall cabinet shelves and catching them as they fall has become a bit of a party trick.
    Pfff. A whole 5' tall.

  • @cathrynharrison4734
    @cathrynharrison4734 3 роки тому +1

    No doctor dont drug them first ...........ASK them

  • @bugglemagnum6213
    @bugglemagnum6213 3 роки тому

    Hypogonadism is a great new replacement for micropeen

  • @GracieDuncan-i3r
    @GracieDuncan-i3r 4 місяці тому

    Verdie Island