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

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This video “Klinefelter (XXY) & Turner Syndrome ” is part of the Lecturio course “Pediatric Genetics” ► WATCH the complete course on lectur.io/klinefeltersyndrome
► LEARN ABOUT:
- Definition, Epidemiology, and Etiology of Turner Syndrome
- Symptoms and Clinical Appearance of Turner Syndrome
- Diagnostics and Differential Diagnostics of Turner Syndrome
- Therapy of Turner Syndrome
- Complications of Turner Syndrome
► THE PROF: Your tutor is Brian Alverson, MD. He is the Director for the Division of Pediatric Hospital Medicine at Hasbro Children's Hospital and Associate Professor of Pediatrics at Brown University in Providence, RI. He has been active in pediatric education and research for 15 years and has won over 25 teaching awards at two Ivy League Medical Schools. Dr. Alverson has extensive experience in preparing students for the USMLE exams and has test writing experience as well.
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Turner Syndrome (Gonadal Dysgenesis) - Diagnosis and Management
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Пікірлер: 102

  • @lisbethraun5320
    @lisbethraun53203 жыл бұрын

    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 жыл бұрын

    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

    Жыл бұрын

    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

    10 ай бұрын

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

  • @binbinky78
    @binbinky783 жыл бұрын

    best lecturio instructor so far

  • @kieshaannpetersen9854
    @kieshaannpetersen9854 Жыл бұрын

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

  • @Viv8ldi
    @Viv8ldi4 жыл бұрын

    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.

  • @lolylu8168
    @lolylu81685 жыл бұрын

    Best possible option for studying and USMLE preparation!

  • @nicolem.a.7650
    @nicolem.a.76503 жыл бұрын

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

  • @vanirampersad794
    @vanirampersad7943 жыл бұрын

    great lecture

  • @BNBKids
    @BNBKids3 жыл бұрын

    Thank you sir..

  • @BebeesHuman
    @BebeesHuman10 ай бұрын

    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!!

  • @amyfarwa6005
    @amyfarwa60052 жыл бұрын

    Thank you Dr.

  • @Charlizzie
    @Charlizzie3 жыл бұрын

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

  • @althaz8623

    @althaz8623

    3 жыл бұрын

    😂💀

  • @max-3158

    @max-3158

    3 жыл бұрын

    I just searched him. Lol

  • @onyxtanner705

    @onyxtanner705

    2 жыл бұрын

    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

    2 жыл бұрын

    @Onyx Tanner Instablaster ;)

  • @onyxtanner705

    @onyxtanner705

    2 жыл бұрын

    @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.

  • @andreasnts1333
    @andreasnts13332 жыл бұрын

    Thank you !

  • @gatluakbangbidit4730
    @gatluakbangbidit47303 жыл бұрын

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

  • @user-jp1gt9ts2u
    @user-jp1gt9ts2u3 жыл бұрын

    Thank you

  • @MrMamakara
    @MrMamakara3 жыл бұрын

    thanks alot

  • @haya8822
    @haya88223 жыл бұрын

    Love it ❣️

  • @Khaled-io9bz
    @Khaled-io9bz5 жыл бұрын

    Thank you for your effort

  • @latadubey7578
    @latadubey75786 ай бұрын

    Its so informative ❤

  • @lecturiomedical

    @lecturiomedical

    4 ай бұрын

    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 KZread 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

  • @franzjosephaque2066
    @franzjosephaque2066 Жыл бұрын

    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.

  • @elangomalavan2276

    @elangomalavan2276

    8 ай бұрын

    Klinefelter is hypo not hyper

  • @michaelstephens1808
    @michaelstephens18084 жыл бұрын

    I have KFS and I’m 66

  • @politie98765432198
    @politie987654321983 жыл бұрын

    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

  • @donotsupportterroristgroups

    @donotsupportterroristgroups

    9 ай бұрын

    He s old enough to seek medical attention on his own.

  • @zovjraar
    @zovjraar3 жыл бұрын

    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. 😒

  • @lebowskilives4312
    @lebowskilives43123 жыл бұрын

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

  • @bugglemagnum6213
    @bugglemagnum62132 жыл бұрын

    Hypogonadism is a great new replacement for micropeen

  • @rashmikumari9644
    @rashmikumari96444 жыл бұрын

    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 жыл бұрын

    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 ✊😊

  • @orvos1459
    @orvos14595 ай бұрын

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

  • @TallDiana

    @TallDiana

    5 ай бұрын

    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

    5 ай бұрын

    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.

  • @c.m.p.tipstricksstudy7150
    @c.m.p.tipstricksstudy71502 жыл бұрын

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

  • @MTB-cq5cy
    @MTB-cq5cy Жыл бұрын

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

  • @bouffant-girl
    @bouffant-girl2 ай бұрын

    I have Klinefelter Syndrome, and my mother had Turner Syndrome

  • @lenkasabyasachi29

    @lenkasabyasachi29

    8 күн бұрын

    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

  • @unkowntheelement9774
    @unkowntheelement97742 жыл бұрын

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

  • @DarkMonster771
    @DarkMonster7712 жыл бұрын

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

  • @dnnnforfordnnn7838

    @dnnnforfordnnn7838

    2 жыл бұрын

    Yes

  • @melanphilia
    @melanphilia2 жыл бұрын

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

  • @Tuner9069

    @Tuner9069

    2 жыл бұрын

    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 жыл бұрын

    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.

  • @KavitayeinKahaaniyaan
    @KavitayeinKahaaniyaan2 жыл бұрын

    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

  • @pearlparrot394
    @pearlparrot3942 жыл бұрын

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

  • @donotsupportterroristgroups

    @donotsupportterroristgroups

    9 ай бұрын

    Your brother is an adult, he needs to seek help if he wishes.

  • @j.b.4340
    @j.b.43408 ай бұрын

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

  • @ad7197
    @ad71974 жыл бұрын

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

  • @di1046

    @di1046

    3 жыл бұрын

    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

    3 жыл бұрын

    @@di1046 no bro

  • @tims7686

    @tims7686

    3 жыл бұрын

    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

    3 жыл бұрын

    @@tims7686 bro can you contact me?

  • @tims7686

    @tims7686

    3 жыл бұрын

    @@ad7197 sure, whats ur discord/email?

  • @Viv8ldi
    @Viv8ldi4 жыл бұрын

    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

    3 жыл бұрын

    No male has turners

  • @fantasticfrances

    @fantasticfrances

    2 жыл бұрын

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

  • @purdyladie155

    @purdyladie155

    2 жыл бұрын

    @@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

    2 жыл бұрын

    @@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 🤷‍♀️

  • @cathrynharrison4734
    @cathrynharrison47343 жыл бұрын

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

  • @ohboy111
    @ohboy11119 күн бұрын

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

  • @lovelybhandari9293
    @lovelybhandari92935 жыл бұрын

    Is it possible to female body

  • @amj.composer

    @amj.composer

    4 жыл бұрын

    What

  • @anthonyy1790

    @anthonyy1790

    4 жыл бұрын

    Never not once is it possible to female body

  • @MissSpaz

    @MissSpaz

    4 жыл бұрын

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

  • @loveandletlove8529

    @loveandletlove8529

    3 жыл бұрын

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

  • @donotsupportterroristgroups

    @donotsupportterroristgroups

    9 ай бұрын

    "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.

  • @prettyfly4xxy
    @prettyfly4xxy4 ай бұрын

    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 😢

  • @haleydoe2279
    @haleydoe22792 жыл бұрын

    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.

  • @Viv8ldi
    @Viv8ldi4 жыл бұрын

    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

    2 жыл бұрын

    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

    10 ай бұрын

    @@priyanshupaswan1840 you did test bro?