Turner chirwere

Turner syndrome ndeye zvisingawanzoitika maitiro echikadzi umo mukadzi asina iwo akajairwa maviri eX chromosomes.

Huwandu hwemakromosomes evanhu i46. MaChromosomes ane ako ese majini uye DNA, zvivakwa zvemuviri. Maviri ema chromosomes aya, echromosomes ebonde, sarudza kana iwe ukave mukomana kana musikana.

• Vakadzi kazhinji vane maviri emakromosomes epabonde akafanana, akanyorwa saXX.
• Vanhurume vane X uye Y chromosome (yakanyorwa saXY).

Mu Turner syndrome, masero ari kushayikwa ese kana chikamu che X chromosome. Mamiriro acho anongowanikwa muvakadzi. Kazhinji kazhinji, mukadzi ane Turner syndrome ane 1 X chete chromosome. Vamwe vanogona kunge vaine 2 X chromosomes, asi imwe yacho haina kukwana. Dzimwe nguva, mukadzi ane mamwe masero ane 2 X chromosomes, asi mamwe masero ane 1 chete.

Zvinogona kuwanikwa zvemusoro nemutsipa zvinosanganisira:

• Nzeve dzakadzika-dzakatarwa.
• Neck inoonekwa yakafara kana webhu-senge.
• Denga remuromo rakamanikana (mukanwa marefu).
• Bvudzi kumusana kwemusoro rakadzika.
• Yakadzika shaya yakadzika uye inoita kunge inopera (kudzoka).
• Kudonhedza maziso uye maziso akaoma.

Zvimwe zvakawanikwa zvinogona kusanganisira:

• Minwe nezvigunwe zvipfupi.
• Maoko netsoka kuzvimba muvacheche.
• Zvipikiri zvakamanikana uye zvinokwira kumusoro.
• Chest yakafara uye yakati sandara. Minyatso inoita kunge yakaparadzaniswa zvakanyanya.
• Kureba pakuberekwa kunowanzo kuve kudiki pane avhareji.

Mwana ane Turner syndrome akapfupika kupfuura vana vanezera rakaenzana uye bonde. Ichi chinonzi chipfupi. Dambudziko iri rinogona kunge risingaonekwe muvasikana vasati vava nemakore gumi nerimwe.

Kukura kunogona kunge kusipo kana kusakwana. Kana kuyaruka kukaitika, kazhinji kunotanga pazera rakajairika. Mushure mezera rekuyaruka, kunze kwekunge marapwa nemahomoni echikadzi, izvi zvakawanikwa zvinogona kunge zviripo:

• Bvudzi repubiki rinowanzovapo uye rakajairika.
• Kukura kwemazamu hakugone kuitika.
• Nguva yekuenda kumwedzi haipo kana yakajeka.
• Vaginal kuoma uye kurwadziwa nekusangana zvakajairika.
• Kushaya mbereko.

Dzimwe nguva, kuongororwa kweTurner syndrome hakugone kuitwa kusvikira munhu mukuru. Inogona kuwanikwa nekuti mukadzi ane mwenje wakanyanya kana asina kuenda kumwedzi uye matambudziko kuve nepamuviri.

Turner syndrome inogona kuongororwa chero panguva yehupenyu.

Inogona kuongororwa usati waberekwa kana:

• Kuongorora kwechromosome kunoitwa panguva yekuedzwa kwepabonde.
• Iyo cystic hygroma ndiko kukura kunowanzoitika mumusoro nemutsipa nzvimbo. Uku kutsvaga kunogona kuonekwa pane ultrasound panguva yekuzvitakura uye kunotungamira kuenderera mberi kuyedza.

Anopa hutano anoita bvunzo dzepanyama uye anotarisa zviratidzo zvekusimukira. Vacheche vane Turner syndrome vanowanzove nekuzvimba maoko nemakumbo.

Iyi bvunzo inotevera inogona kuitwa:

• Ropa mahormone mazinga (luteinizing hormone, estrogen, uye follicle-inosimudzira mahormone)
• Echocardiogram
• Karyotyping
• MRI yechipfuva
• Ultrasound yenhengo dzekubereka neitsvo
• Kuongorora kwepelvic

Mimwe bvunzo inogona kuitwa nguva nenguva inosanganisira:

• Kuwedzera kweropa kuongorora
• Utachiona hunotarisa
• Ropa bvunzo ye lipids uye glucose
• Kunzwa kuongorora
• Kuongorora kwemaziso
• Kuongorora kweBone density

Kukura kwehormone kunogona kubatsira mwana ane Turner syndrome kukura kureba.

Estrogen uye mamwe mahormone anowanzo kutanga kana musikana aine makore gumi nemaviri kana gumi nematatu.

• Aya anobatsira kukonzera kukura kwemazamu, epubiki vhudzi, mamwe maitiro epabonde, uye kukura muhurefu.
• Estrogen kurapa kunoenderera kuburikidza nehupenyu kusvika zera rekuguma kuenda kumwedzi.

Vakadzi vane Turner syndrome vanoshuva kuve nepamuviri vanogona kufunga nezve kushandisa rinopa zai.

Vakadzi vane Turner syndrome vangangoda kutarisirwa kana kuongororwa kweanotevera matambudziko ehutano:

• Keloid kuumbwa
• Kunzwa kurasikirwa
• Kuwedzera kweropa
• Chirwere cheshuga
• Kuonda kwemapfupa (osteoporosis)
• Kuwedzera kweaorta uye kudzikisira kweaortic vharuvhu
• Kurwara
• Kufutisa

Dzimwe nyaya dzinogona kusanganisira:

• Kurera manejimendi
• Rovedza muviri
• Shanduko kuva munhu mukuru
• Kushungurudzika uye kushushikana pamusoro pekuchinja

Ivo vane Turner syndrome vanogona kuve nehupenyu hwakajairwa kana vakanyatso tariswa nemupi wavo.

Mamwe matambudziko ehutano anogona kusanganisira:

• Utachiona
• Zvinetso zveitsvo
• Zvirwere zvepakati nzeve
• Scoliosis

Iko hakuna inozivikanwa nzira yekudzivirira Turner syndrome.

Bonnevie-Ullrich chirwere; Gonadal dysgenesis; Monosomy X; XO

• Karyotyping

Bacino CA, Lee B. Cytogenetics Mune: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 98.

Sorbara JC, Wherrett DK. Kukanganisika kwekusimudzira bonde. Mune: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff naMartin's Neonatal-Perinatal Mushonga. 11th ed. Philadelphia, PA: Elsevier; 2020: chits. 89.

Styne DM. Physiology uye kusagadzikana kwekuyaruka. Mune: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Chinyorwa cheEndocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020: chitsiko 26.