Mwana wako ane dambudziko rekukura pabonde here? Dzidza nezveSwyer Syndrome (XY Gonadal Dysgenesis)

Wakambonzwa here nezvemunhu ane machromosome eXY anozvarwa ari musikana? Zvinonzwika zvisinganzwisisike, handiti? Asi zvinogoneka zvechokwadi. Dambudziko iri risingawanzoitiki rinonzi Swyer Syndrome. Pamwe une mibvunzo yakawanda mupfungwa dzako. Ngatitaurei nezvazvo zvese zvakadzama.

Chii chinonzi Swyer Syndrome?

Zvichitaurwa zviri nyore, Swyer Syndrome chirwere chinokonzerwa nekuti machromosome emunhu ari XY, zvichireva kuti ndeevanhurume, asi nhengo dzekunze dzemuviri wake dziri dzechikadzi. Kazhinji, kana machromosome eXY aripo, nhengo yemurume nepaburi remazamu zvinokura. Zvisinei, vanhu vane Swyer Syndrome vanokura vagina, chibereko, uye fallopian tubes.

Vanhu ava havana mazamu epabonde, kureva maovari kana machende. Asi, vane chidimbu chemavanga asingashande zvachose. Vanachiremba vanodana izvi kuti streak gonads. Nekuda kweizvi, havapfuuri kusvika pazera rekuyaruka kunze kwekunge vawana kurapwa kwekutsiva mahormone . Havanawo mukana wekubata pamuviri nenzira yechisikigo. Zvisinei, zvinokwanisika kuva nemwana kuburikidza nenzira dzakadai sekupa mazai .

Rimwe zita reSwyer Syndrome nderekuti XY gonadal dysgenesis. Pano, "gonadal" inoreva magonad, uye "dysgenesis" inoreva "kukura kusina kujairika." Chirwere ichi chinowira muchikamu che intersex. Vanachiremba vanoti chirwere chekukura pabonde, kana kuti chirwere chekukura pabonde (DSD) .

Swyer Syndrome yakajairika zvakadii?

Ichi chirwere chisingawanzoitiki . Chinobata mwana mumwe chete pavana 80,000 vanoberekwa. Saka unogona kufungidzira kuti chikamu ichi chakaderera sei.

Ndezvipi zviratidzo zvemunhu ane Swyer Syndrome?

Chirwere ichi chinowanzoonekwa panguva yekuyaruka , kazhinji panguva yekuyaruka. Zviratidzo zvinogona kusiyana kubva pamunhu kuenda kune mumwe, asi pane zvimwe zviratidzo zvakajairika:

• Kukura kwemazamu kwakadzikira kana kusakura zvachose .
• Kusavapo kwekuenda kumwedzi pamwedzi (amenorrhea) .
• Kukura kupfuura vamwe vezera rimwe chete.
• Vhudzi harina kukura kana kuti harina kukura zvakanyanya munzvimbo dzakadai semumahapwa nenzvimbo dzakavanda.

Fungidzira, mwanasikana wako ava nemakore 14 kana 15 ekuberekwa. Shamwari dzake dzese dzasvika pazera rekuyaruka uye dzatanga kuenda kumwedzi. Asi mwanasikana wako haasati asiyana. Akareba kupfuura vamwe vana, asi mazamu ake haasi kuratidza zviratidzo zvekukura. Apa ndipo panogona kuva nekusava nechokwadi nevabereki nemwana nezveizvi.

Chii chinokonzera Swyer Syndrome?

Chikonzero chaicho chechirwere ichi hachizivikanwe nguva dzose . Zvisinei, zvichibva pakutsvagurudza kuri kuitwa, nyanzvi dzinotenda kuti chirwere ichi chinokonzerwa nekuchinja kwemajini kunokanganisa kusiyana kwepabonde. Zvichitaurwa zviri nyore, chero shanduko mune chero jini inobatsira pakukura kwematende inogona kukonzera Swyer Syndrome.

Vamwe vanhu vanogara nhaka chirwere ichi kubva kuvabereki vavo . Pamwe vabereki vavo vaisatomboziva kuti vane shanduko mune rimwe remajini avo. Kune vamwe, zvinogona kuitika zvisina tsarukano, zvichireva kuti shanduko itsva yemajini inoitika pasina chikonzero chakajeka.

Swyer Syndrome inokonzerwa nekuchinja kwemajini kunonzi SRY (Sex-determining Region Y), iyo inobata vanhu 15% kusvika 20%. Nyanzvi dzezvemajini dzinotenda kuti jini reSRY ndiro rinoita kuti nyama dzisina kupatsanurwa dzikure kuita machende. Kana jini reSRY rikachinjwa, maitiro aya haaitike nemazvo, uye machende haambokure.

Pamusoro pezvo, Swyer Syndrome inogonawo kukonzerwa nekuchinja kwemajini anotevera:

• MAP3K1
• DHH
• NR5A1

Majini aya angaita seakaoma zvishoma, asi aya ndiwo mamwe majini makuru anobatanidzwa mukukura kwepabonde.

Ndezvipi zvinetso zvinogona kukonzera Swyer Syndrome?

Kune matambudziko maviri makuru anogona kukonzerwa nechirwere ichi:

• Gonadal bundu: Vanhu vanosvika 30% vane Swyer Syndrome vanowana bundu mugonads, iro rinowanzova mavanga anoumbwa panzvimbo dzinowanikwa mazai. Rudzi rwakajairika rwebundu imhando yebundu rinonzi gonadoblastoma . Kunyangwe gonadoblastoma iri bundu risina njodzi, vanachiremba vanoiona senzira yekutanga bundu rakaipa. Saka, senzira yekudzivirira, vanachiremba vanowanzo kurudzira kubviswa kwemasero egonadal. Kunyangwe izvi zvichityisa zvishoma, zvakakosha kudzivirira dambudziko guru mune ramangwana.

• Osteoporosis: Kana ikasarapwa, Swyer Syndrome inogona kukonzera mapfupa ako kushaya simba. Nekufamba kwenguva, izvi zvinogona kukonzera osteoporosis.Kurapa kwekutsiva mahormone kunogona kubatsira kudzivirira kutetepa kwemapfupa uye kurasikirwa nemapfupa.

Swyer Syndrome inoonekwa sei?

Dzimwe nguva, vanachiremba vanogona kuona chirwere ichi vasati vaberekwa kana kuti pakuzvarwa kwavo. Asi vanhu vazhinji havazozivi kuti vanacho kusvika pave paya, pavanenge vasati vasvika pazera rekuyaruka sezvaitarisirwa.

Paunoenda kunoona chiremba, anotanga aita ongororo yemuviri wako uye obvunza nezvenhoroondo yako yezvekurapa. Zvadaro, vanogona kuraira bvunzo dzakasiyana-siyana kuti vadzidze zvakawanda nezvemuviri wako uye maumbirwo emachromosomes. Zvimwe zvacho zvinosanganisira:

• Kuongororwa kweKaryotype: Izvi zvinokutendera kuti uone maitiro chaiwo emachromosomes ako.
• Kuongororwa kwemajini: Izvi zvinogona kuona kana paine shanduko mumajini.
• Ultrasound yepelvic: Izvi zvinogona kutarisa mamiriro enhengo dzemukati dzakadai sechibereko nemazai (kana kuti streak gonads dzinozvitsiva).
• MRI (Magnetic Resonance Imaging) scan: Izvi zvinogonawo kupa mufananidzo wakajeka wenhengo dzemukati.

Kunyange zvazvo bvunzo idzi dzingaita sedzakaoma, ndidzo dzinobatsira pakuongorora chirwere nemazvo.

Swyer Syndrome inorapwa sei?

Swyer Syndrome haigone kurapwa zvachose. Saka, zvinangwa zvikuru zvekurapa ndezvekugadzirisa zviratidzo zvisingadiwe, kuchengetedza mapfupa ako akasimba, uye kuderedza njodzi yako yekenza. Kuti izvi zviitike, chiremba wako anogona kukurudzira zvinotevera:

• Kuvhiyiwa kubvisa mitsetse yegonoda: Sezvandambotaura, izvi zvakakosha kuderedza njodzi yekuva nemamota.
• Kurapa kwekutsiva mahormone: Izvi zvinogona kubatsira kudzorera kuenda kumwedzi, kubatsira mukukura kwemazamu, uye kudzivirira osteoporosis. Kazhinji zvinosanganisira kupa mahormone echikadzi.

Ndingaitei kana mwana wangu aine Swyer Syndrome?

Kuyaruka hakusi nyore kune chero ani zvake. Kumwana ane Swyer Syndrome, ndipo panguva iyi paanotanga kuona kuti muviri wake wakasiyana newaanosangana nawo. Izvi zvinogona kukanganisa zvikuru hutano hwepfungwa dzemwana.

Mwana wako angave achisangana nemanzwiro akawanda nezvenyaya iyi. Taura naye pachena . Zvingava zvakanaka kutsvaga rubatsiro kubva kumupi wezano kuti amubatsire kugadzirisa manzwiro aya akaomarara. Yeuka kuti rudo rwako, rutsigiro, uye kunzwisisa kwako zvakakosha zvikuru kumwana wako panguva ino.

Zvakakosha:Pakutsanangurira mwana wako chirwere ichi, simbisa kuti haana "kuremara" zvachose. Iyi haisi mhosva yake, ingori musiyano pakukura kwemuviri wake.

Munhu ane Swyer Syndrome anotarisirwa kurarama kwenguva yakareba sei?

Unganzwa kunyaradzwa kunzwa izvi. Nguva yekurarama kwevanhu vane Swyer Syndrome yakafanana neyevanhu vasina chirwere ichi . Kana ikarapwa zvakanaka, haizokanganisi nguva yekurarama kwako kana yemwana wako chero nenzira ipi zvayo.

Swyer Syndrome inogona kudzivirirwa here?

Swyer Syndrome chirwere chinokonzerwa nemajini . Saka hapana chaunogona kuita kuti uzvidzivirire. Hazvisi mhosva yemunhu.

Ndinofanira kuona chiremba rini?

• Kana uri mukadzi uye usati watanga kuenda kumwedzi pazera remakore gumi nematanhatu , unofanira kuona chiremba.
• Kana uri mubereki uye uchifunga kuti mwana wako ari kunonoka kuyaruka , taura nachiremba wevana wemwana wako. Vanogona kutarisa kukura kwemwana wako uye kukuudza kana zvichidikanwa kurapwa.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Kana ukaonekwa uine Swyer Syndrome, ungangoda kubvunza chiremba wako mibvunzo yakaita seiyi:

• Ungandiudza here kuti chii chakakonzera kuchinja kwemajini kwakakonzera chirwere ichi?
• Ndirini pandinofanira kutanga kurapwa nekutsiva mahormone ini kana mwana wangu?
• Ini kana mwana wangu tichazofanira kuvhiyiwa here? Kana zvakadaro, rini?
• Vamwe vese vemhuri yangu vanofanira kuongororwa majini here?
• Ndezvipi zvimwe zvinhu zvaungakurudzira? (semuenzaniso, mabasa ekupa mazano, mapoka ekutsigira)

Zvakajairika kunzwa kuvhiringidzika uye kusava nechokwadi paunoziva kuti mwana wako ane chirwere cheDhisdom of Sexual Development (DSD). Unogona kuona kuti mwana wako ane Swyer Syndrome, chirwere chevanhurume nevanhukadzi, panguva yekuyaruka, kunyanya kana vezera rake vasingaratidzi hunhu uhwu pavanenge vachikura.

Pakupedzisira, meseji yekudzokera nayo kumba

Chinhu chakanaka ndechekuti Swyer Syndrome inogona kurapwa nekurapwa . Chiremba wako anogona kugadzira hurongwa hwekurapa hwakagadzirirwa iwe kana mwana wako. Vanogonawo kukuratidza zvinhu zvinogona kubatsira mwana wako kurarama zvakanaka nechirwere ichi.

Usatya. Hausi wega.Kune vanhu vazhinji vanorarama nechirwere ichi. Nekubatsirwa kwakakodzera kwechiremba, rutsigiro, uye kunzwisisa, kunyangwe munhu ane Swyer Syndrome anogona kurarama hupenyu hune hutano uye hunofadza. Chinokosha ndechekutsvaga mazano ekurapa nekukurumidza uye kutevedzera marapirwo anokurudzirwa.

Swyer Syndrome, XY Gonadal Dysgenesis, kukura pabonde, mahormone, majini ekuchinja, kuyaruka, kusangana pabonde, DSD