Klinefelter's Syndrome

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          A thupuia luh hmain sex determination in human hi sawi zau hmasa phawt ang. Chuti lo chuan a fiah thei dawn tlat lo.

           Mihring hian chromosomes 46 (pair 23) kan nei a, pair khat hi pa atanga lokal a ni a, pair khat dang leh chu nu atanga lokal a ni. Heng chromosomes te zingah hian hmeichhiana leh mipana siamtu bik an awm a, chungte chu sex chromosomes an ti.  Mihringah sex chromosomes pahnih a awm a, chungte chu X leh Y chromosomes an ti. Hetah hian hmeichhia leh mipa kan inang lova, hmeichhia ah chuan X leh X a in pair a, chutih laiin mipa ah ve thung chuan X leh Y a in pair ve thung. Mipa in Y chromosome kan nei a, hmeichhia in Y chromosome an nei ve lo. Chuti anih chuan mipa ti mipa tu chu Y chromosome a ni a, hmeichhia ti hmeichhia theitu pawh X chromosome pahnih inkawp tlat te hi a ni.

Klinefelter's Syndrome chu le:

           Hmeichhe chi leh mipa chi a insiam lai hian chromosomes pair te kha a half ah an tlahniam ta a. Mipa chi in a chromosome half a keng a, chutih laiin hmeichhe chiin a chromosomes half a keng bawk a. Hmeichhia chuan chromosomes 22 + X nei chi a siam a, mipa chi erawh chuan 22 + X emaw 22 + Y emaw a lo nei thin. Hmeichhe chi leh mipa chi a lo inzawm hian 22 + X leh 22 + Y emaw 22 + X leh 22 + X emaw te a lo inzawm ta a. Tichuan, chihnih, 44 + XY emaw 44 + XX emaw a lo insiam ta thin a ni. Nu in naute a lo pai ta a, 44 + XY zawk anih chuan naute chu mipa a ni dawn a, 44 + XX anih chuan naute chu hmeichhia a ni ve thung dawn a ni. Hei hi normal condition ah a ni.

           Mipa leh hmeichhia chi a insiam laia meiosis hun lai takin zat leh zatin chromosome an insem darh thin a, chutianga an insem darh lai chuan a inthen darh dan tur pangai lo deuh hleka inthendarhna (non-disjunction) a lo thleng palh thei a. Chumi avang chuan hmeichhe chi X chromosome pakhat chauh nei tur khan XX chromosome a keng palh thei a; chutiang bawkin mipa chinung pakhatin X chauh emaw Y chauh emaw nei tur khan XY a lo keng palh thei. Chung abnormal gametes te chu normal  gametes nen in fertilised ta se, abnormality a lo awm dawn tihna a ni.

           Entirna pakhat lo sawi ta ila: Hmeichhe chi ah X chromosomes pahnih te, a half a inthen darh tur an nih laiin a ruka inthen darh ve lo a awm thei. Tichuan chi 22 + X siam aiah 22 + XX a lo siam palh hlauh thei thin. Hei hi mipa chi 22 + Y nen a lo inzawm palh hlauh chuan 44 + XXY nei mihring a rawn siam dawn tihna a lo ni. Hetiang mihring hian hmeichhe character hi an nei tam tlat mai dawn a ni. Hetiang ang hi a hmuchhuaka zir chiangtu ber Dr. Henry Klinefelter-a hming chawiin Klinefelter's syndrome an ti a ni.

Male gamete (23 chromosomes) + female gamete (23 chromosomes) = Foetus (46 chromosomes)

22  +  X    fertilise with  22 + X  =  44  +  XX     (female foetus having normal 46 chromosomes)
22  +  Y    fertilise with  22 + X  =  44  +  XY     (male foetus having normal 46 chromosomes)

22  +  XY fertilise with  22 + X  =  44  +  XXY  (trisomic male having having abnormal 47 chromosomes)

           A hnuai ber ami hi Klinefelter's syndrome a ni a, mi pangaiin chromosomes 46 an neih laiin anmahni hmeichhe nihna siamtu chromosomes X chromosomes extra in an nei a, chuvangin chromosome 47 an nei bik a ni.

           Klinefelter's syndrome hi a tam em em a, mipa 500 zinga pakhat talin Klinefelter's syndrome hi nei tura ngaih a ni a. A symptom pawh hi a lan chhuah dan a inang lo thei hle a. Thenkhat ah a symptom a nasat laiin thenkhatah ve thung chuan a hriat lutuk loh thei thin. Testerone a insiam tlem bik vangin mipa dang aiin an character hi a "pa lo" deuh thin a, an chak lo deuh zawk bawk.

           Mipa diktak ve tho an ni a. An nausen laiin hriselna inang rau rau ah nausen mipa dang aiin an chawrche hle zawk a, an thawm pawh a zawi hle a, an thu har a, an bawkvak har a, an kal thei har thin bawk.  An lo thang lian a, naupang dawldang, chak lo tak, cher tak, sa pan leh sang lam, harh lo tak leh tihrawl pawh ngah lo tak an ni thin tlangpui. Mipa te ti mipa tu ber testerone an taksa in a siam tlem bik vangin tihrawl an nei tlem a, an vun leh hmai bawr velah hmul an nei tlem a, an voice a thum lo va, a lang chhuak nasa ah phei chuan an kawng bawr pawh a vawng laih a, hmeichhe hnute ang mai nei te pawh an awm hial thei. An zakzum a, an harh zawk zawk lova, mipa naupang dang angin an tha a za zek zek lo va, thu an awih em em thin bawk. A tlangpuiin mipa pangai aiin an khan a sang deuh thin bawk. He syndrome lan chhuah dan hi mi hrang hrangah a inang lo thin a. Thenkhat ah chuan a symptom hi a nasa hle a, chutih laiin mi thenkhatah erawh mipa dang pangai nen an danglamna a lang vak lo thung. Mipa dang ang thovin normal sex life an nei a, mahse an chi ah mipa chinung a insiam tlem bik thin avangin fa nei thei lo (infertile) an ni duh khawp mai.

A tihdam theih em?

           A enkawl dam lam pang hi chu medical science lam chanpual liau liau a ni tawh a, thui tak ka ziak ve ngam tawh lo. Gene therapy thiamna sang zelah hian an gene defect hi siam that theih a ni tawh em ka chiang chiah lova. He chromosomal disorder trisomy hi siam tha kher lo pawhin Testerone treatment (testerone replacement therapy) hmangin tha takin a enkawl dam ve theih a ni. Testerone treatment avang hian a hmaa a neih ngai loh mipa character thenkhat aw thum deuh te, hmaia hmul to te, tihrawl te a lo insiam a. Hei mai pawh ni lovin fa nei thei chiang bal turin a enkawl dam theih a ni. He treatment hi hlawhtling tur chuan enkawl hma a tha ber niin mithiam te'n an sawi.

Trisomic te i sawi kai nuaih a, triploid te nen hian a in ang em? Science students te pawhin an chhiar ve duh mai thei a, sawi zau belh hlek teh.

             Zawh na fing tak anih hi. Aneuploidy leh Polyploidy chung chang hi mi tam takin an hriat pawlh fo thin asin.

           Chromosome te hi a pair in an awm tur anih kha. Trisomy/trisomic ah chuan chromosome pair khat zingah khan chromosome extra pakhat lo awm belh ve ta se. Chu pair bikah chuan chromosome pahnih aiah pathum a lo awm tawh ang. Chu chu trisomy an ti. 44 +XY mipa insiam tur aiah 44 + XY + X nei a rawn chhuak ta a. Chu organism chuan 47 chromosomes a lo nei ta thin a ni. Trisomy hi Klinefelter's syndrome ah kan hmu. Tin pair khat zing ami chromosome pakhat hi kim lo ta se, tichuan chu pair bik chuan chromosome pakhat chauh a nei ang. Chutiang chu monosomy an ti bawk. Monosomy hi Turner's syndrome ah kan hmu thin.

           Triploid ah ve thung chuan organism pakhatin chromosome set thum a nei daih ve thung. Human chromosome set khat hi 23 chromosomes a ni a, chu chu haploid a ni. Normal human in chromosome set 2 kan nei thin a, chutah chuan chromosome 46 a awm. Chu chu diploid an ti a. Triploid anih dawn chuan chromosome set 3 a awm a ngai. Chuti a lo nih si chuan, human in chromosome 69 a neih a tul ang. Triploidy hi human ah a awm thei lo hrim hrim a, plant ah erawh chuan nasa takin chromosome set te an danglam thei a, triploid mai pawh ni lovin tetraploid thlengin an lar em em thin.

Kan ram ah tuai an tam hle a, heng te hi Klinefelter's Syndrome an ni em? 

           Tam tak hi chu an ni mai thei. Tam tak hi chu psychological effect an ni ang a, tam tak hi chu sex influenced tha lo tak vang ani thei bawk in ka ring. Thudik tak erawh ka bik hre hauh lo mai le.