Isifo esinjengoShereshevsky-Turner syndrome senziwa ikakhulukazi emantombazaneni futhi siqala ekuthomeni kokuqala kokukhulelwa. Kubangelwa ama-chromosomes anomzimba, lapho isethi yezinhlayiya zocansi iphulwa. Lokhu ukuxilongwa kuyinto engavamile, kodwa awukwazi ukukuqeda.
Syndrome Shereshevsky-Turner - kuyini?
Ososayensi abakaze bathole ubuhlobo phakathi kwezempilo yabazali kanye nokuthuthukiswa kokugula kwengane, njenge-Turner's syndrome. Ubizwa nangokuthi i-Ulrich's syndrome. Isimo somama olindelekile siyinkimbinkimbi yokusongelwa kokuphuphuma kwesisu (kuvela ku-trimester yokuqala noma yesibili), uhlobo olunzima lwe-toxicosis, nokuzalwa ngokuvamile kuvamile futhi kunomzimba.
Izinsana ezisanda kuzalwa zisebenza kahle, kodwa zinezinto ezingavamile. Ngoba i-syndrome ye-Shereshevsky-Turner ibonakala yi:
- Izinguquko ezihlanganisweni ze-elbow;
- amaphondo e-pterygoid entanyeni;
- izinso zifakwe njengamahhashi.
I-Syndrome Shereshevsky-Turner - i-karyotype
Umzimba womuntu ukhiwa esibelethweni kusuka kwesinye iseli, okuthiwa i-zygote. Yakhiwa emva kokuhlanganiswa kwama-gametes amabili athatha ulwazi lwezofuzo kubazali babo. Lezi zakhi zikhomba esikhathini esizayo uhlobo nempilo yengane. I-karyotype evamile ingaba nesethi yama-chromosomes, afana ne-46XX noma i-46XU. Uma inqubo ye-gametogenesis iphazamiseka, khona-ke umbungu usuke uphambene nentuthuko.
I-karyotype yeziguli ezine-Shereshevsky-Turner syndrome yisifo esingathí sina lapho i-chromosome ye-X ingekho noma ingaphazanyiswa. Lokhu kuphambuka kuhambisane nesakhiwo esiyinkimbinkimbi sezinguquko emzimbeni, futhi kubonakala ekuthuthukiseni okungenele kwezitho zokubeletha zomntwana. Aziqukethe i-gonads, kukhona ama-ovaries nama-vas deferens.
I-Syndrome Shereshevsky-Turner - imvamisa yesenzakalo
Lesi sifo saqala ukuchazwa ngo-1925. I-Shereshevsky-Turner syndrome yenzeka entombazaneni esanda kuzalwa eyizinkulungwane ezintathu. Imvamisa yamanje yesibalo yalesi sifo ingaziwa ngokuqondile ngenxa yokuqedwa okuzenzekelayo kokukhulelwa ezinyangeni ezihlukahlukene. Ezimweni ezingavamile kakhulu, ukuxilongwa okunjalo kwenziwa kwabafana.
Syndrome Shereshevsky-Turner - izimbangela
Ukuphendula umbuzo mayelana nokuthi kungani kubangelwa i-Shereshevsky-Turner syndrome, kuyadingeka ukuthi usho mayelana ne-anomaly yocansi ye-X chromosome. Uma kuguqulwa, khona-ke emzimbeni wombungu kwenzeka:
- ukususwa kwesandla eside noma esifushane;
- i-isochromosome X ngesikhashana esifushane noma eside;
- ukudluliselwa kwe-X / X;
- bhala i-X chromosome nokunye.
Ukuhlukunyezwa okunjalo kwenzeka ema-20% amacala uma kukhona ukukhipha ubuciko, isibonelo, 45, X0 / 46, i-XY noma i-45, i-X0 / 46, i-XX. Indlela yokwenzeka kwalesi sifo emadodeni ingachazwa ngokudluliselwa kwamandla. Ingozi yokuthuthukisa i-Shereshevsky-Turner syndrome ayihlobene nesikhathi semama esizayo. Kungenzeka:
- ngenxa yokuchoboza okungalungile kwe-zygote;
- ngokulahlekelwa kwe-chromosome yabazali.
I-Syndrome Shereshevsky-Turner - izimpawu
Lesi sifo singabonakalisa kokubili ngaphandle nangomsebenzi wezitho zangaphakathi. Uma kuthiwa yi-Shereshevsky-Turner syndrome, izimpawu zingase zibe ngale ndlela:
- i-lymphostasis;
- i-strabismus ;
- i-hypogonadism;
- isiqu esifushane (umuntu omdala akadluli 150 cm);
- ukukhuluphala;
- ukungabi khona kwe-phalanges;
- i-infantilism yezocansi;
- I-thorax ikhulisiwe futhi inesimo somgqomo;
- unciphise intamo;
- isimo esingavamile sama-auricles esithinta ukulalelwa;
- i-epicanthus noma i-ptosis (ijwabu leso le-deformation);
- amabala we-pigment (i-vitiligo noma i-nevi).
Ezinganeni ezisanda kuzalwa, izinyawo, izandla nesikhumba zibopha entanyeni zingakhula, futhi izinwele azikhuli. Amathambo omhlathi ancane, isibhakabhaka siphakeme. In the coarctation inhliziyo ye-aorta kungenzeka, it is stratified, futhi ubuqotho be-septum interventricular kuphazamiseka. Isimo sengqondo esinesifo esinjalo njengoba i-Shereshevsky-Turner syndrome ayihlupheki, kodwa ukunakwa nokucabangela kuyasakaza.
Ama-pin ahlala ekhonjelwa, futhi ama-genitals aqhutshwe kahle. Ama-glands ashintshwa ama-connective tissues angafaki amangqamuzana nokuvuthwa okugcwele akukwenzeka. Amantombazane akhulisi amabele, azikho isidumbu, i-amenorrhea eyinhloko ivela, ngakho-ke ukuzala akusho neze. Kunezinhlobo ezingu-3 ze-dysgenesis: ezihlanzekile, ezifiphele futhi ezixutshwe. Ihluke ekubonisweni kwemitholampilo.
I-Syndrome Shereshevsky-Turner - ixilongwa
Uma i-fetus ezayo engenakho i-chromosome ye-X, bese iqedela i-monosomy, i-Shereshevsky-Turner syndrome iboniswa yi-neonatologist esibhedlela sokubeletha noma ngodokotela wezingane. Uma izibonakaliso eziyinhloko zesifo zingekho, khona-ke phawula ukuthi kungaba kuphela ukukhulelwa. Ochwepheshe balula izivivinyo ze:
- ama-hormone anquma i-gonadotropin ne-estrogen;
- funda i-karyotype.
Ngesikhathi ukuxilongwa kwe-Shereshevsky-Turner syndrome isiguli kufanele sivakashele ophthalmologist, isazi sezinzwa, isazi sokuhlinza inhliziyo, i-cardiologist, i-endocrinologist, i-genetics, i-lymphologist, i-gynecologist / i-andrologist, ne-otolaryngologist. Ukuthola okungavamile odokotela abaqokwe:
- imaging resonance magnetic ;
- ukuhlolwa kwe-ultrasound kwezinso nezitho zangasese;
- i-electrocardiogram;
- i-radiography;
- ukuhlolwa kwegazi emtholampilo;
- i-densitometry.
Syndrome Shereshevsky-Turner - ukwelashwa
Ngokuthola ukuxilongwa okunjalo, njenge-Turner syndrome, ukwelashwa kuxhomeke emazweni we-Y-chromosome ku-karyotype. Uma zitholakala, le ntombazane isusiwe ama-ovari. Ukusebenza kwenziwa encane kuze kube sekupheleni kweminyaka engu-20. Umgomo wayo oyinhloko ukuvimbela ukwakheka kwesisu esibi. Uma engekho lo geni, ukwelashwa kwe-hormone kunqunywe.
Kuqhutshwa eminyakeni engu-16-18 kanti umgomo oyinhloko wokwelashwa ngu:
- ukuthuthukiswa kwezici zobunikazi zesibili;
- ukuvimbela ukwehluleka kwe-estrogen;
- ukubuyiswa komjikelezo wokuya esikhathini ;
- ukwehla ezingeni le-gonadotropins.
Iziguli ezine-syndrome ye-Shereshevsky-Turner zithola ukululekwa kwengqondo, lapho zisiza khona ukuba zivumelane nomphakathi futhi zithuthukise ikhwalithi yokuphila. Ngalesi sifo, abesifazane abaningi bahlala bengenalutho. Ukwelashwa ikakhulukazi kuhloswe ku:
- ukuqedwa kwamaphutha angaphandle;
- isinxephezelo sezinkinga zokuzalwa ezingekho emzimbeni;
- ukulungiswa kokukhula;
- izinkinga zemethamo.
Ukuphila nge-syndrome ye-Shereshevsky-Turner
Uma lesi sifo sitholakala kusenesikhathi futhi ukwelashwa kwenziwa ngesikhathi, khona-ke ukukhula kwengane kuzobe kuvamile. Imithi yanamuhla ivumela amantombazane ukuthi abe nezingane zabo, isibonelo, IVF. Ukuphila nge-Turner's syndrome kunezibikezelo ezinhle. Iziguli azihlushwa ukungalingani kwengqondo, kodwa zibhekene nokusebenza ngokomzimba kanye nezinkinga ze-neuropsychic.
Abantu abane-Turner's Syndrome
Ifomu elilula lesi sifo yi-Shereshevsky-Turner mosaic syndrome. Kulesi simo, amanye amangqamuzana wesifazane ane-X chromosome eyodwa, kanti amanye - amabili. Izingane ezinezifo ezingenalo izifo ezingenalo izifo ezinzima, kanti izifo zobulili ezihambisana nokuya esikhathini azikhulumi kakhulu, ngakho-ke kukhona ithuba lokukhulelwa esikhathini esizayo. I-phenotype ebonakalayo ikhona, kodwa hhayi njengekhazimulayo njengokungathi i-monosomy.
I-Syndrome uShereshevsky-Turner - isikhathi sokuphila
Uma unesithakazelo embuzweni walokho okushiwo yi-Shereshevsky-Turner syndrome, kufanele kuthiwa ayithinti isikhathi sokuphila. Okuhlukile kungase kube isifo senhliziyo esibhedlela kanye nezifo ezithintekayo. Njengoba ukwelashwa okufanele futhi okufika ngesikhathi, iziguli zihola impilo evamile, zibe nabalingani bobulili futhi zidale imindeni.