I-Shereshevsky Turner syndrome - Lesi yisifo se-chromosomal, esivezwa ngokungafani kokukhula komzimba, ebuntwaneni bocansi kanye nesiqu esifushane. Imbangela yalesi sifo i-monosomy, okungukuthi, umuntu ogulayo une-chromosome yobulili eyodwa kuphela engu-X.
I-syndrome ibangelwa i-primary gonadal dysgenesis, eyenzeka ngenxa ye-anomalies ye-chromosome yobulili engu-X. Ngokwezibalo, ezinganeni ezisanda kuzalwa ezingu-3000, ingane engu-1 izozalwa nge-Shereshevsky-Turner syndrome. Abacwaningi baqaphela ukuthi inani langempela lamacala alesi sifo alaziwa, ngoba ukuphuphuma kwesisu okuzenzakalelayo kuvame ukwenzeka kwabesifazane ezigabeni zokuqala zokukhulelwa ngenxa yalesi sifo. Ngokuvamile, lesi sifo sitholakala ezinganeni zabesifazane. Kuyaqabukela, lesi sifo sitholwa ezinganeni ezisanda kuzalwa zesilisa.
I-synonyms ye-Shereshevsky-Turner syndrome yigama elithi "Ulrich-Turner syndrome", "i-Shereshevsky syndrome", "i-Turner syndrome". Bonke laba ososayensi babe nesandla ekutadisheni lesi sifo.
Izimpawu ze-Turner syndrome
Izimpawu ze-Turner syndrome ziqala ukubonakala kusukela ekuzalweni. Isithombe somtholampilo salesi sifo simi kanje:
Izingane zivame ukuzalwa ngaphambi kwesikhathi.
Uma ingane izalwa ngesikhathi, khona-ke isisindo somzimba wakhe nobude bayo buzocatshangelwa uma kuqhathaniswa namanani ajwayelekile. Izingane ezinjalo zinesisindo esisuka ku-2,5 kg kuya ku-2,8 kg, kanti ubude bomzimba wabo abukho ngaphezu kwama-42-48 cm.
Intamo yomntwana osanda kuzalwa ifinyezwa, kukhona ukugoqa ezinhlangothini zayo. Kwezokwelapha, lesi simo sibizwa nge-pterygium syndrome.
Ngokuvamile phakathi nenkathi yokuzalwa, ukukhubazeka kwenhliziyo yemvelo yokuzalwa, i-lymphostasis iyatholakala. Imilenze nezinyawo, kanye nezandla zomntwana, zivuvukele.
Inqubo yokuncela enganeni iphazamiseka, kukhona ukuthambekela kokuphindaphinda njalo ngomthombo. Kukhona ukungahlaliseki kwezimoto.
Ngokushintsha kusukela ebuntwaneni kuya ebuntwaneni, kukhona ukugoba hhayi nje ngokomzimba kodwa nasekukhuleni kwengqondo. Inkulumo, ukunaka, inkumbulo kuyahlupheka.
Ingane ijwayele ukuphindaphinda i-otitis media ngenxa yokuthi iqala ukulahlekelwa kwezindlebe ze-conductive. I-Otitis media ngokuvamile ivela phakathi kweminyaka engu-6 no-35. Ebudaleni, abesifazane bathambekele ekulahlekelweni kwezinzwa okuqhubekayo, okuholela ekulahlekelweni kokuzwa ngemva kweminyaka eyi-XNUMX nangaphezulu.
Ngokukhula, ukuphakama kwezingane akudluli ku-145 cm.
Ukubonakala kwentsha kunezici zalesi sifo: intamo ifushane, imbozwe nge-pterygoid folds, isimo sobuso akusho lutho, sivilapha, akukho mibimbi ebunzini, udebe olungezansi luqina futhi sags (ubuso be-myopath). noma ubuso be-sphinx). Umugqa wezinwele awuthathwa kancane, ama-auricles akhubazekile, isifuba sibanzi, kukhona ukungahambi kahle kogebhezi nokungathuthuki kahle komhlathi ongezansi.
Ukwephulwa njalo kwamathambo namalunga. Kungenzeka ukuhlonza i-hip dysplasia kanye nokuphambuka kwe-elbow joint. Ngokuvamile, ukugoba kwamathambo omlenze ophansi, ukufinyezwa kweminwe yesi-4 no-5 ezandleni, kanye ne-scoliosis kutholakala.
Ukukhiqizwa okunganele kwe-estrogen kuholela ekwakhiweni kwe-osteoporosis, okubangela ukuvela kokuphuka njalo.
Isibhakabhaka esiphezulu se-gothic sinomthelela ekuguqulweni kwezwi, okwenza ithoni yalo ibe phezulu. Kungase kube nokukhula okungavamile kwamazinyo, okudinga ukulungiswa kwe-orthodontic.
Njengoba isiguli sikhula, i-lymphatic edema iyanyamalala, kodwa ingenzeka ngesikhathi sokuzikhandla ngokomzimba.
Amakhono obuhlakani abantu abane-Shershevsky-Turner syndrome awaphazamiseki, i-oligophrenia ayitholakali kakhulu.
Ngokwehlukana, kufanelekile ukuphawula ukwephulwa kokusebenza kwezitho nezinhlelo zezitho ezahlukahlukene ze-Turner's syndrome:
Engxenyeni yesistimu yokuzala, uphawu oluphambili lwalesi sifo yi-hypogonadism eyinhloko (noma i-infantilism yocansi). I-100% yabesifazane ihlushwa yilokhu. Ngesikhathi esifanayo, awekho ama-follicles kuma-ovari awo, futhi wona ngokwawo amelelwa imicu yezicubu ezinamafutha. Isibeletho asithuthukisiwe, sincishisiwe ngosayizi uma kuqhathaniswa nobudala kanye nenkambiso yomzimba. I-labia majora imise okwe-scrotum, kanti i-labia encane, i-hymen kanye ne-clitoris ayikakhuli ngokugcwele.
Esikhathini sokuthomba, amantombazane anokukhula kancane kwezindlala zebele ezinezingono ezihlanekezelwe, izinwele zincane. Izikhathi zifika sekwephuzile noma aziqali nhlobo. Ukungatholi abantwana ngokuvamile kuwuphawu lwe-Turner's syndrome, nokho, ngokuhlukahluka kokuhlelwa kabusha kofuzo, ukuqala kanye nokuzala kokukhulelwa kuhlala kungenzeka.
Uma lesi sifo sitholwa emadodeni, khona-ke ngasohlangothini lwesistimu yokuzala banezinkinga ekwakhiweni kwamasende nge-hypoplasia yabo noma i-cryptorchidism yamazwe amabili, i-anorchia, ukuhlushwa okuphansi kakhulu kwe-testosterone egazini.
Engxenyeni yesistimu yenhliziyo, kuvame ukuba khona ukukhubazeka kwe-ventricular septal, i-ductus arteriosus evulekile, i-aneurysm kanye ne-coarctation ye-aorta, isifo senhliziyo.
Ngasohlangothini lwesistimu yomchamo, ukuphindwa kabili kwe-pelvis, i-stenosis yemithambo yezinso, ukuba khona kwezinso ezimise okwehhashi, kanye nendawo engabonakali yemithambo yezinso kungenzeka.
Kusuka ohlelweni lokubukwayo: i-strabismus, i-ptosis, ubumpumputhe bombala, i-myopia.
Izinkinga zesikhumba azivamile, isibonelo, i-nevi enombala ngobuningi, i-alopecia, i-hypertrichosis, i-vitiligo.
Ngasohlangothini lwepheshana lesisu, kunengozi eyengeziwe yokuba nomdlavuza wekoloni.
Kusuka ohlelweni lwe-endocrine: i-Hashimoto's thyroiditis, i-hypothyroidism.
Ukuphazamiseka kwe-metabolic kuvame ukubangela ukukhula kohlobo lwe-XNUMX lwesifo sikashukela. Abesifazane bavame ukukhuluphala.
Izinkinga ze-Turner Syndrome
Izimbangela ze-Turner syndrome zitholakala kuma-genetic pathologies. Isisekelo sabo siwukwephulwa kwezinombolo ku-X chromosome noma ukwephulwa kwesakhiwo sayo.
Ukuchezuka ekwakhekeni kwe-X chromosome ku-Turner syndrome kungase kuhlotshaniswe nokudidayo okulandelayo:
Ezimweni eziningi, i-monosomy ye-X chromosome iyatholakala. Lokhu kusho ukuthi isiguli sishoda nge-chromosome yocansi yesibili. Ukwephulwa okunjalo kutholakala ku-60% yamacala.
Okuhlukile kwesakhiwo ku-X chromosome kutholakala kuma-20% ezimweni. Lokhu kungaba ukususwa kwengalo ende noma emfushane, i-X/X yohlobo lwe-chromosomal translocation, ukususwa kwetheminali kuzo zombili izingalo ze-X chromosome ngokubonakala kwechromosome eyindandatho, njll.
Enye i-20% yamacala okuthuthukiswa kwe-Shereshevsky-Turner syndrome kwenzeka ku-mosaicism, okungukuthi, ukuba khona kwezicubu zomuntu zamaseli ahlukene ngofuzo ezinhlobonhlobo ezihlukahlukene.
Uma i-pathology ivela emadodeni, khona-ke imbangela i-mosaicism noma i-translocation.
Ngesikhathi esifanayo, iminyaka yowesifazane okhulelwe ayithinti ingozi eyengeziwe yokuzalwa kwengane esanda kuzalwa ene-Turner syndrome. Kokubili izinguquko ze-quantitative, qualitative, ne-structural pathological pathological ku-chromosome engu-X zenzeka ngenxa yokuhluka kwe-meiotic yama-chromosome. Ngesikhathi sokukhulelwa, owesifazane uhlushwa i-toxicosis, unengozi enkulu yokukhipha isisu kanye nengozi yokubeletha kusenesikhathi.
Ukwelashwa kwe-Turner's syndrome
Ukwelashwa kwe-Turner's syndrome kuhloswe ngayo ukukhuthaza ukukhula kwesiguli, ekwenzeni kusebenze ukwakheka kwezimpawu ezinquma ubulili bomuntu. Kwabesifazane, odokotela bazama ukulawula umjikelezo wokuya esikhathini futhi bafeze ukujwayelekile kwayo esikhathini esizayo.
Lapho umuntu esemncane, ukwelashwa kufinyelela ekuthatheni ama-vitamin complexes, ukuvakashela ihhovisi likamasseur, nokwenza ukuvivinya umzimba. Ingane kufanele ithole umsoco osezingeni eliphezulu.
Ukwandisa ukukhula, kunconywa ukwelashwa kwe-hormonal kusetshenziswa i-hormone Somatotropin. Ilawulwa ngomjovo ngaphansi kwesikhumba nsuku zonke. Ukwelashwa ngeSomatotropin kufanele kwenziwe kuze kube yiminyaka eyi-15, kuze kube yilapho izinga lokukhula lehla lifika ku-20 mm ngonyaka. Nikeza umuthi ngesikhathi sokulala. Ukwelashwa okunjalo kuvumela iziguli ezine-Turner's syndrome ukuthi zikhule zibe ngu-150-155 cm. Odokotela batusa ukuhlanganisa ukwelashwa kwamahomoni nokwelapha usebenzisa ama-anabolic steroids. Ukuqapha njalo yi-gynecologist kanye ne-endocrinologist kubalulekile, ngoba ukwelapha ama-hormone ngokusetshenziswa isikhathi eside kungabangela izinkinga ezihlukahlukene.
Ukwelashwa kokubuyisela i-Estrogen kuqala kusukela lapho osemusha efinyelela eminyakeni engu-13 ubudala. Lokhu kukuvumela ukuthi ulingise ukuthomba okuvamile kwentombazane. Ngemuva konyaka noma unyaka nesigamu, kunconywa ukuthi uqale inkambo ye-cyclic yokuthatha i-estrogen-progesterone yokuvimbela inzalo yomlomo. Ukwelashwa ngama-hormone kunconywa kwabesifazane kuze kube yiminyaka engama-50. Uma indoda ibhekene nalesi sifo, khona-ke kunconywa ukuthatha amahomoni wesilisa.
Ukukhubazeka kwezimonyo, ikakhulukazi, ukugoqa entanyeni, kuqedwa ngosizo lokuhlinzwa kwepulasitiki.
Indlela ye-IVF ivumela abesifazane ukuthi bakhulelwe ngokufakela iqanda lokunikela kuye. Kodwa-ke, uma okungenani umsebenzi we-ovarian wesikhashana esifushane ubonwa, khona-ke kungenzeka ukusebenzisa abesifazane ukuvundisa amangqamuzana abo. Lokhu kwenzeka lapho isibeletho sifinyelela ubukhulu obujwayelekile.
Uma kungekho ukukhubazeka okukhulu kwenhliziyo, iziguli ezine-Turner syndrome zingaphila kuze kube sekugugeni kwemvelo. Uma unamathela ohlelweni lokwelapha, khona-ke kungenzeka ukudala umndeni, uphile impilo evamile yocansi futhi ube nezingane. Nakuba iningi leziguli lihlala lingenabantwana.
Izinyathelo zokuvimbela lesi sifo zincishiswa ekuboniseni isazi sofuzo kanye nokuxilongwa kokubeletha.