I fanu natna tuar Turner Syndrome chungchang hi i zir mai ang u.

A chang chuan i fanu chu naupang dang aiin a tawi zawkin i hria em? A kum rualpui ṭhian dangte chu puitlin hun thleng tawh mah se, i fanu chuan chutiang chhinchhiahna chu a la lantir lo em ni? Nu emaw pa emaw hian hetiang thil hi tlem a hlauthawng leh lungkhamna a neih hi thil pangngai tak a ni. A tam zawkah chuan hengte hi thil pangngai a ni thei. Amaherawhchu, a chang chuan hei hi a chhan chu ‘Turner Syndrome’ an tih, nula chauh khawih thin, genetic condition bik a ni thei. He hming kan hriat hian hlauh a ngai lo. Vawiin hian hei hi eng nge a nih, engvangin nge a lo awm tih leh eng nge tih theih tih te chu awlsam tak leh chiang takin kan sawi dawn a ni.

A awlsam zawngin Turner Syndrome hi eng nge ni?

Turner syndrome hi pianpui genetic condition a ni a, hmeichhe naupang chauh a nghawng a ni. Hri kai theih a ni lo.

Hei hi hrethiam tur chuan biology lamah kir leh ila. A awlsam zawngin kan taksaa cell tin hian kan genetic information (kan san zawng, kan rawng, kan hmel, etc.) tichiangtu ‘chromosomes’ a nei vek a. A tlangpuiin hmeichhe cell pakhat hian sex chromosome pahnih X (XX) an tih a nei a. Mipa cell pakhat hian X pakhat leh Y pakhat (XY) a nei a.

Turner syndrome hi nausen hmeichhiain X chromosome pahnih zinga pakhat emaw a then emaw a bo vek tihna a ni. Hei hi naupai lai emaw, naupai lai emawa thil thleng random tak a ni. Hei hi nu emaw pa emaw sual vang a ni lo tih hriat reng a pawimawh .

He natna hian naupang tinte chu a nghawng dan a inang lo thei a, mahse a lan chhuah dan tlangpui pahnih a awm a:

1. Midang aia tawi zawk (short height) .

2. Low-functioning ovaries , chu chu puitlin hun leh fa neih theihna a nghawng tihna a ni.

Eng nge a lan chhuah dan? Engtin nge hei hi kan hriat chian?

Naupang thenkhat chuan an pian tirh atangin heng symptoms te hi an nei thin. Midang tan chuan naupan lai hian a natna lanchhuahna hi a lang zauh zauh thin. A châng chuan, hei hi puitlin thlengin rinhlelh a ni lo. Chuvangin heng symptoms te hi kan hriat chian a pawimawh hle.

A châng chuan naupai hmaa test, naupai laiin ultrasound scan ang chi te hian clues a pe thei ṭhin. Entirnan, naute chu an kawr hnung lamah tui awm ang maia a lan chuan, emaw, an thinlung emaw, an kal emaw-ah harsatna a awm chuan doctor-te chuan an ringhlel mai thei.

Turner syndrome chi hrang hrang lian ber ber a awm em?

Ni e, he dinhmun hi a lo awm dan azirin chi hnih lian tak a awm.

Monosomy X tih a ni

Hei hi a tam ber chi a ni. Hei hi naupang taksaa cell tinah X chromosome pakhat a bo vekna hmun a ni. Hei hi naupai laiin nu egg emaw, pa sperm-a random defect vang a ni tlangpui. Hetiang chi ah hian symptoms a langsar zawk tlangpui.

Mosaic Turner natna (Mosaic Turner Syndrome) a ni

‘Mosaic’ tih thumal hian a sawi angin hetah hian thil thleng chu naupang taksa chhunga cell thenkhatah chauh X chromosome thenkhat emaw, a zawng zawng emaw a bo vek tih hi a ni.Cell dangte chuan chromosome pangngai (XX) an nei a. Kan taksa hi brick (cell) te tak te atanga siam bang angin han ngaihtuah teh. Mosaic condition-ah chuan brick thenkhat chauh hian hetiang danglamna hi an nei a ni. Midangte chu mi pangngai an ni. Hei hi embryonic stage chhunga cell inthen darh laia random error a ni. Hei hian symptoms tlemte chauh a thlen thei a, hriatchhuah pawh a harsa deuh thei bawk.

Hetiang dinhmun avang hian hriselna lama harsatna (complication) dang eng nge lo awm thei?

Turner syndrome vei naupangte hi hriselna lama harsatna engemaw zat an neih theihna a sang hle a, chuvangin medical checkup neih fo a pawimawh hle.

Engtin nge doctor hian hei hi a hriat chian?

Doctor chuan naute pian hma emaw, a pian hnuah emaw he natna hi a hre thei a ni.

Pian hma chuan:

• NIPT (Noninvasive prenatal testing): Hei hi nu naupai atanga thisen lak chhuah hmanga naute genetic information test dan a ni.
• Ultrasound scan: Hei hi rinhlelh theih a ni a, scan-ah hian naute thinlung, kal emaw, a kawr hnung lama tui awm zat emaw a awm tih hriat a nih chuan rinhlelh theih a ni.
• Amniocentesis: He natna hi naute chhehvel amniotic fluid sample lak a, naute cell-a genetic test (karyotype analysis) tih hian 100% a finfiah theih a ni.

Pian hnuah: 1.1.

Naute a pian hnuah doctor chuan naute natna lan chhuah dan atanga thil dik lo a rinhlelh chuan thisen test ‘karyotyping’ tih chu an ti ang. Hei hian thisen sample lak a, microscope hmanga chromosome te enfiah a, X chromosome pakhat a bo leh bo loh chiang taka hriat a ngai a, a pum pui emaw, a then emaw a awm lo.

Enkawlnate chu engte nge ni? A dam kim thei ang em?

A hmasa berah chuan Turner syndrome hi genetic condition a nih avangin a dam kim thei lo.

Enkawlna hi hormone lam a ni ber.

• Human growth hormone therapy: Hetiang enkawlna hi naupang san zawng tihsan nan a pawimawh hle. Hei hi hormone injection nitin pek thin a ni. He enkawlna hi naupan lai atanga tan a nih chuan, chu chu a thang chak lo tih hriat a nih veleh naupang chuan a sanna tha tak a nei thei dawn tihna a ni.
• Estrogen therapy: Turner syndrome vei hmeichhe tam tak hian an pianphungah estrogen an siam chhuak lo va, chuvangin an puitlin vel (kum 11-12 vel) velah pawn lam atanga estrogen pek an ni tlangpui. Hei hian puitlin hun chhinchhiahna a thlentu a ni a, chu chu hnute thang leh thlasik tan tirh te hi a ni. Ruh chak leh thinlung hriselna atan pawh a pawimawh hle.
• Progestin therapy: Kum engemaw zat estrogen therapy an neih hnuah pawh progestin an tih hormone pek a ni bawk a, chu chuan thlasik hun chhung chu a pianphungah a vawng reng thei a ni.

Heng hormone hmanga enkawlna bakah hian a hmaa kan sawi tawh ang chi harsatna (thinlung natna, kal harsatna, leh hriatna lama harsatna) te chu enkawlna lak leh a kaihhnawih specialist-te hnen atanga enfiah fo a pawimawh hle.

Engtikah nge Doctor hnenah ka fa chungchang hi ka sawipui ang?

Natna hriatchhuah a, a rang thei ang bera enkawl tan a pawimawh ber.

I fate thanlenna leh milestones te chu en reng ang che. I fanu chu a kum rualpui naupang dangte aiin a tawi zawk tih i ngaihtuah a nih chuan, emaw, a chunga kan sawi tak taksa lama chhinchhiahna eng emaw tal a lantir a nih chuan, i naupang enkawltu doctor nen inbiakna neih chu tihkhawtlai suh.

Doctor-te rawtna pawimawh dang pahnih a awm bawk a, chungte chu:

• Zirna lama harsatna neite endik: I fate hmasawnna chu a hma thei ang bera ngaihven la, kum 1-2 vel a nih pawhin a hma thei ang bera ngaihsak la, zirlai lama harsatna an neih leh neih loh enfiah a tha. A awm chuan sikula zirtirtu te nen pawh inbiain naupang mamawh bik puihna i pe thei bawk.
• Rilru hriselna lama tanpuina zawng: I fate’n he natna nena an nun lai hian khawtlang harsatna, mahni inngaihsakna hniam leh lungkhamna lo awm thinte a hmachhawn theih nan rilru lam hriselna counselor (naupang rilru lam thiam) puihna lak a pawimawh hle.

Turner syndrome vei naupang dam rei zawng chu mipui zahawmte aiin a rei deuh thei a, damdawi lam enkawlna reng reng, a hun taka enkawl, leh hriselna lama harsatnate enkawl dan tha tak nei chuan nun pangngai tak, hlim tak an hmang thei a ni.