I fa chu a puitlin hun a tlai em? Hriselna pawh a nei lo em ni? Kallmann Syndrome a ni thei ang em?

I fa chu tlem a upa tawh mah se, a thiante angin puitlin chhinchhiahna a lantir lo em ni? A nih loh leh, rim thenkhat, entirnan, pangpar emaw, ei tur emaw rim a hre tak tak lo tih i hre tawh em? Hetiang thil hian nu leh pa kan nih angin kan rilruah lungkhamna leh ngaihtuahna tlem a siam thei a ni. Chuvang chuan, vawiinah hian heng symptoms langsar tak tak, mahse khawtlang nunah sawi tam loh, mahse fimkhur a pawimawh em em dinhmun kan sawi dawn a ni. Chu chu Kallmann Syndrome an tih natna a ni .

He Kallmann Syndrome hi eng nge ni?

A awlsam zawngin, Kallmann Syndrome hi genetic condition hmuh tur awm lo tak a ni . Hemi kawngah hian thil thleng ber chu naupang puitlin hun chu nasa takin a tlai thin . A \henah chuan puitlin hun hi a tawp vek thei a ni. Chu bâkah, he natna vei tam tak chuan rim hriatna an nei tlem hle emaw, an hloh vek emaw a ni . Hei hi damdawi lam tawngin ``anosmia'' kan ti bawk.

Hetiang dinhmun a awm chhan chu nausen chu nu pum chhunga a la awm lai hian a taksa thanlenna nena inzawm gene thenkhatah inthlak danglamna engemaw zat a awm thin. Computer program-a tihsual tlemte ang maiin han ngaihtuah teh. A châng chuan heng genetic changes te hi nu leh pa atanga fate rochun theih a ni. Chu chu naupang chuan he genetic trait hi nu emaw, pa emaw a\angin a dawng tihna a ni. Mahse, a then phei chuan doctor-te chuan heng genetic changes te hi random takin a thleng thei a, chhungkaw history chiang tak a awm lo niin an sawi.

Hetiang dinhmun hi hmeichhia aiin mipaah ​​a tam zawk . A tlangpuiin, naupang puitlin hun a tlai lutuk hian nu leh pa leh doctor-te chuan an ngaihven zawk thin. Chuvangin, a tam zawkah chuan Kallmann Syndrome hi kum 8 leh 15 inkar ah hmuhchhuah a ni.

Doctor-te chuan he natna hi hming dang an hmang \hin a, chu chu ``hypogonadotropic hypogonadism'' tih a ni. Hei hi a buaithlak deuh niin a lang a, mahse mipa testicles leh hmeichhia te ovary te hian puitlin leh sexual function atana pawimawh sex hormone an siam chhuak tlem tihna mai a ni. I hmu em? Hormonal system-ah hian eng emaw zat tlakchhamna a awm tihna a ni.

Kallmann syndrome natna lan chhuah dan chu engte nge ni?

Tunah chuan Kallmann Syndrome vei hian eng symptoms nge a lantir tih kan en ang. Heng chhinchhiahna thenkhat hi naupan lai atanga hmuh theih a ni a, thenkhat chu puitling hnuah pawh a lang thei bawk. Mi zawng zawng hian symptoms inang an nei vek dawn lo.

A bulpui ber chu puitlin hun nena inzawm mizia te hi a ni:

• Hmeichhiaah chuan hnute thanna hi a awm lo vek emaw, a tlem hle emaw a ni .
• Hmeichhe naupang tanMenstruation (menstruation) hi a awm lo thei lo a, a tlangpui aia tlai zawk leh mumal lo takin a thleng thei bawk.
• Tlangval te penis leh testicles hi a tlangpui aia te zawk a ni .
• Infertility chu puitlin huna hmeichhia leh mipa fa neih theihna tihtlem emaw, hloh emaw a ni .

Chu bakah, feature dang hmuh tur awmte chu:

• Hriak hriatna hloh vek (anosmia) emaw, rim hriatna tlahniam lutuk emaw hi Kallmann syndrome ziarang dang a ni.
• Mi thenkhat chuan kea kal emaw ding emaw hian balance issue an nei thei .
• Very rarely , a cleft palate , chu chu congenital cleft in the upper palate, a awm thei.
• Ha harsatna , entirnan, ha hloh emaw ha te tak te danglam tak (dental abnormalities).
• Mit chetna lama harsatna , nystagmus ang chi, chu chu mit chu rang tak leh thunun theih loha chetna a ni.
• Chau lutuk tih hriat reng (Fatigue) .
• Hmeichhia hian thlasik hun mumal lo an nei thin .
• Sex drive a hniam .
• Sudden changes in mood , a châng chuan lungkhamna, lungngaihna, leh thinrimna rilru pu fote nêna inzawm a ni.
• A tlem hle a, ``Renal agenesis`` tih natna hi kidney pakhat nei lovin piang a ni .
• Mi thenkhat chuan an ruh (spine) curvature (Scoliosis) an nei thin .
• Chhan chiang tak awm lovin taksa rihna tihpun .

A pawimawh ber chu mi zawng zawng hian heng symptoms zawng zawng hi kan nei vek lo. Mi thenkhat phei chuan an rim hriatna an hloh thei bawk. Chutiang hunah chuan doctor-te chuan he natna hi ``normosmic idiopathic hypogonadotropic hypogonadism (nIHH)`` an ti thin. Chumi awmzia chu rim hriatna chu a pangngai a, mahse hormone buaina chu a awm tihna a ni.

Engvangin nge hetiang dinhmun hi a lo awm?

Okay, tunah chuan, ‘Engvangin nge hetiang hi a lo awm? Eng nge a bulpui ber?' Kallmann Syndrome thlentu ber chu kan taksaa gene thenkhat inthlak danglamna emaw chhiatna emaw a awm thin a ni . Heng inthlak danglamnate hian naupang puitlin hun tur thununtu thil buaithlak tak takte chu a tibuai a, chu chu thluaka intan a ni.

A tlangpuiin he puitlin hun hi naupang thluaka gland pawimawh tak , hypothalamus an tih atanga intan a ni a, chu chuan hormone Gonadotropin-Releasing Hormone (GnRH) a tichhuak thin.Chemical pakhat siam chhuahna nen chuan. Ngaihtuah teh he `(GnRH)` hi puitlin hun zawng zawng bul tantu ``master switch`` ang mai a ni. Naupang Kallmann syndrome neiah chuan hypothalamus hian he `(GnRH)` hormone hi a siam chhuak tlem hle a, a siam chhuak lo pawh a ni thei. Chuvangin, chu ``master switch`` chu ``on`` a nih loh avangin, puitlin hun chu a intan tha lo hle.

He hormone `(GnRH)` hian mipat hmeichhiatna lama puitlinna, mipat hmeichhiatna lama duhna, leh nakin lawka fa neih theihna (fertility) a puitu a ni. He hormone hian thisen kaltlangin thluaka gland pawimawh dang pituitary gland-ah a kal a. Chumi hnuah chuan `(GnRH)` hormone chuan pituitary gland chu hormone dang pahnih siam turin signal a pe a. Anni chu:

• Follicle tichaktu hormone (FSH) a ni.
• Luteinizing hormone (LH) hmanga siam a ni.

Heng hormone pahnih, `(FSH)` leh `(LH)` te hi hmeichhe naupang ovary leh mipa testicles-ah direct-in an kal a, sex hormone (estrogen leh testosterone ang chi) siam chhuahnaah a pui a, mipat hmeichhiatna lama hmasawnna a thlen thin. Chuvangin, `(GnRH)` awm lohnaah chuan he chain pumpui hi a buai ta a ni.

Hrisel lohna chhan pawh hi heng genetic changes te nen hian a inzawm tlat a ni. Genetic change thenkhat hian naupang thluak rim hriat theihna a nghawng bawk. A tlangpuiin kan hnar chhunga olfactory nerve cells te hian rim chi hrang hrang an hmuchhuak a, chu thu chu thluaka olfactory bulb (thluak rim siamtu hmun) ah an thawn thin. Kallmann syndrome-ah hian heng olfactory nerve cells te lo thanglian danah emaw, thluak nena an inzawmnaah emaw harsatna a awm a. Chuvang chuan rim chungchanga signal te chu thluak thlengin a thleng tha lo.

Engtin nge genetic influence chu a awm?

Tunah chuan zirchiangtute chuan Kallmann syndrome leh ``hypogonadotropic hypogonadism'' natna dangte thlentu genetic variation 25 chuang an hmuchhuak tawh a ni. Chumi awmzia chu he natna hi gene pakhat aia tam avanga lo awm a nih a rinawm tihna a ni. Chung zingah chuan gene engemaw zat chu he natna nen hian a inzawm tlat tih hmuhchhuah a ni a:

• `KAL1 (ANOS1)` tih a ni
• `CHD7` tih a ni
• `FGFR1` tih a ni
• `GNRHR` tih a ni
• `IL17RD` tih a ni
• `PROK2` tih a ni
• `SOX10` a ni
• ``TACR3'' tih a ni.

Heng genetic changes te hi embryonic stage, chu chu nausen nu pum chhunga a la awm lai hian a thleng thin. A châng chuan heng inthlâk danglamnate hi random takin a thleng thei a, chhan awm lovin a thleng thei bawk. Mahse, thil tam takah chuan heng inthlak danglamna hi nu leh pa atanga fate rochun theih a ni.

Heng genetic changes te hi naupangte hnena pek chhuah dan kawng hrang hrang a awm a. Heng rochan dan (inheritance pattern) hi kan ti a ni :

• Autosomal recessive inheritance: Hetiang a nih chuan nu leh pa pahnih hi genetic variation (symptoms nei lo, mahse gene chhia an nei tihna) carrier an ni. Naupangin he natna hi a neih theih nan chuan nu leh pa pahnih hian gene chhia copy pahnih hi an rochun vek tur a ni.
• Autosomal dominant inheritance: Hetiang dinhmun hi naupangin nu leh pa pakhat (nu emaw pa emaw) hnen atanga gene chhia copy khat a rochun pawhin a awm thei.
• X-linked inheritance: Hetiang a nih chuan gene chhia chu X chromosome-ah a awm a. Hei hian mipa a nghawng nasa zawk thei.

Hengte hi damdawi lam thil thuk tak tak ni mahse, he natna hi gene hmanga thlah khat atanga thlah dangah engtin nge a darh theih tih ngaihtuahna rough tak neih a pawimawh ka ti.

Hei hian eng harsatna nge a thlen theih?

Naupang puitlin hun hi an taksa leh rilru lama hmasawnna atana thil pawimawh tak a ni. Kallmann Syndrome hian naupang chu beisei angin chu milestone a thlen theih loh nan a veng thei a ni. Chumi awmzia chu naupang mipat hmeichhiatna lama hmasawnna chu kum inang naupang dangte nena khaikhin chuan a tlai thei a, a tawp vek thei bawk.

Ngaihtuah teh, naupang tê tê chu a kum rualpui ṭhian dangte nêna an awm laiin, an ṭhiante taksa chu a inthlâk danglam (thil sang chho zel, aw thlak danglam, hmul sei, hnute ṭhang chhoh ang chi), mahse anmahni taksa erawh chu a danglam lo tih hmuh a harsat ang? An hmel lan danah zak leh tlawm zawkin an inngai mai thei. Midang laka danglam leh inhlat tak angin an inhria mai thei. Hetiang thil avang hian naupang chuan rilru lama harsatna, lungngaihna emaw, lungkhamna nasa tak emaw a nei tam zawk a ni . Sikul leh khawtlang nunah midang nena inpawh tawn hi a harsa mai thei.

Chuvangin, hetiang natna nei naupang hi taksa lama enkawlna pek a pawimawh hle a, chubakah an rilru hriselna enkawl a pawimawh hle a, a tul chuan counseling pek a pawimawh hle bawk Hetah hian nu leh pa leh zirtirtute thlawpna pawh a hlu hle.

Doctor-te hian engtin nge hei hi an hmuh?

A tlangpuiin, i fate hmasawnna chungchangah ngaihtuahna i neih chuan, entirnan, kum 13-14 an tlin hmaa puitlin hmel an lan tan loh chuan, naupang enkawltu doctor hnenah i kal hmasa ang. A nih loh leh endocrinologist pawh i hmu thei bawk.

Doctor-in a tih hmasak ber chu naupang taksa enfiahna uluk tak a tih hi a ni. Chu chu, an san zawng, an rih zawng leh an puitlin theihna chhinchhiahna (hnute thanna leh mipat hmeichhiatna lama hmasawnna ang chi) te an enfiah tihna a ni. Tichuan naupang leh nang (nu leh pate) chu naupang kum 8 leh 15 inkar chhunga taksa lama inthlak danglamna an tawn tlangpui chungchang an zawt a, chhungkuaah hian tu emaw chuan puitlin hun a tlai tawh em tih emaw, puitlin hun a paltlang lo tak tak em tih emaw an zawt thei bawk. Tin, rim hriatna lamah harsatna a awm em tih an zawt bawk ang.

Tichuan, doctor chuan Kallmann Syndrome a rinhlelh chuan test engemaw zat a rawt thei a, chungte chu:

• Thisen test dan: 1.1.Hengte hi fiahna pawimawh ber pakhat a ni. Taksa chhunga hormone hrang hrang awm zat an en thin. A bik takin, a hmaa kan sawi tawh pituitary hormone, FSH leh LH tia koh te, sex hormone testosterone (mipaah) leh estrogen (hmeichhiaah) te hi a ni. Heng hormone level te hi Kallmann syndrome ah hian a hniam tlangpui.
• Sense of smell enfiahna atana test: Hei hi test awlsam tak a ni. Naupang chu rim hriat chi hrang hrang (e.g. coffee, sahbawn, mint) pek a ni a, chu chu hriat chian tir a ni.
• Genetic tests: Hei hian a hmaa kan sawi tawh thisen sample-a Kallmann syndrome nena inzawm, genetic variation bikte zawn a huam a ni. Mahse, heng test te hi tih a ni ngai lo va, a man pawh a to deuh thei bawk. A tul chuan tih chauh an ni a, test dang an neih hnuah.
• A chang chuan thluak MRI scan hmangin hypothalamus leh pituitary glands-ah harsatna a awm em tih te, olfactory bulb hmasawnna tlakchhamna a awm em tih te an enfiah thei bawk.

Enkawlna a awm em?

Vanneihthlak takin Kallmann Syndrome enkawlna tha tak tak a awm a . Enkawlna ber chu hormone replacement therapy (HRT) a ni. Hei hian taksain a pianphung anga a siam chhuah loh emaw, a siam chhuah tlem emaw hormone pek a huam a ni. Beiseina chu heng enkawlnate hian puitlin tanna kawngah a pui ang a, secondary sexual characteristics (hmai sam leh hnute thanna ang chi) a siam ang a, ruh a tichak bawk ang.

Amaherawhchu, enkawl dan leh hormone chi hrang hrang pek dan hi mi tin a inang lo thei a, chu chu naupang chu mipa leh hmeichhia a nih leh nih loh leh kum a zirin a inang lo thei a ni.

Damdawi hman tlanglawn tak tak thenkhat chu hetiang hi a ni:

• Mipa naupang tan: Testosterone hi hormone pek a ni. Injection angin (thla khatah vawi khat vel), vun patch angin emaw, nitin vun gel hnawih angin emaw pek theih a ni .
• Hmeichhe tan: Estrogen hi pek hmasak a ni. A hnuah chuan progesterone nen an inzawm khawm a, thlasik a tichhuak leh thin. Hengte hi pill angin emaw, vun patch angin emaw pek theih a ni.
• A chang chuan, a bik takin puitling fa neih tumte tan chuan GnRH hormone pump hmanga enkawlna emaw, FSH leh LH ang chi hormone injection, HCG (human chorionic gonadotropin) leh hMG (human menopausal gonadotropin) te chu ovulation (hmeichhiaah) emaw, sperm production (mipaah) tihchak nan pek theih a ni.

He enkawlna a tan hnu hian doctor chuan naupang chu a enfiah fo ang a, hormone level a enfiah ang a, a tul angin enkawlna dose a siamrem ang.

Hetiang dinhmun nen hian eng nge i beisei theih ang?

Hetiang natna nei naupang hian a dam chhung emaw hun rei tak emaw hormone replacement therapy a ei a ngai mai thei . Chu chu thil awmdan pangngai a ni.

Mahse thu lawmawm tak chu Kallmann syndrome nei hmeichhia leh mipa te pawhin hormone therapy dik tak hmangin nau an pai leh thei a ni. Hei hi enkawlna bik a awm. Mipa thenkhat chuan enkawlna an chawlhsan hnuah pawh sperm an siam chhunzawm thei. Doctor-te chuan hei hi ‘reversible Kallmann syndrome’ tiin an sawi. Mahse hei hi mi zawng zawngah a thleng lo.

Puitling leh tleirawl luh hi nunah harsatna tam tak a awm a. Kallmann Syndrome neih hian chu harsatna chu a tizual thei a ni. Hei hian puitlin hun a tikhawtlai thei a, a nih loh leh puitlin lohna tluantling pawh a thlen thei bawk. Chuvângin, i fain he syndrome hi a neih chuan an ṭhiante tih ang taksa lama inthlâk danglamna chu an tawng lo mai thei. Chu chuan an hmel lan danah lungkhamna a siam thei a, a zahpui thei a, mi dangte laka inhlat tumna a siam thei bawk. Anmahni chu chhuahsan ang maiin an inhria thei a, a nih loh leh an danglam hle bawk.

Puitling hun tur leh hun ruat awm lo mah se, i fate hmasawnna, a bik takin mipat hmeichhiatna lama hmasawnna chungchangah zawhna emaw, ngaihtuahna emaw i neih chuan, a tha ber chu naupang enkawltu emaw, hormone specialist emaw biak hi a ni Nang leh i fate chu uluk takin an ennawn thei a, a tul angin kaihhruaina leh enkawlna an pe thei bawk.

Take-Home Thuchah a ni

Okay, chuvangin thui tak kan sawi tawh atang hian Kallmann Syndrome chungchangah hian ngaihdan tha tak, chiang tak i neih ka beisei.

A tawi zawngin, Kallmann syndrome hi genetic condition hmuh tur awm lo tak a ni a, a bul berah chuan puitlin hun a tikhawtlai a, a tam zawkah chuan rim hriatna pawh a hloh bawk.

• Hemi chungchanga harsatna lian ber chu thluaka hormone production chain intan hi a ni.
• He natna hian mipa leh hmeichhia a nghawng thei a , mahse mipaah ​​a tam zawk.
• A lan chhuah dan chu kum dik takah puitlin tawhna chhinchhiahna lantir loh te, rim hriatna hloh emaw tlahniam emaw, ha lama harsatna, leh mit inher lama harsatna te a ni thei.
• Hormone therapy hi a enkawl ber a ni. He enkawlna hi dam chhung zawngin a ngai mai thei.
• Enkawlna hian puitlin hun a thlen thei fo a , fa neih theihna a siam tha leh thei bawk .
• Hetiang natna vei naupang leh puitling tan pawh rilru lam puihna leh counselling hi a pawimawh hle .
• I fate puitlin hun chungchangah rinhlelhna i neih chuan tihkhawtlai suh la, doctor pan rawh . A hmuhchhuah hma chuan enkawlna tan a awlsam zawk a, harsatna awm thei pawh a tlem phah bawk.

He thu hi in tan a \angkai hle tih kan beisei tak zet a ni. He zinkawngah hian nangmah chauh i ni lo tih hre reng ang che. Sri Lanka ramah hian hetiang dinhmun ang chiah tawk mekte tanpui leh kaihruaitu tur doctor leh counselor thiam tak tak an awm a.

Kallmann Syndrome, puitlin hun tlai, rim hriatna hloh, anosmia, hormone lama harsatna, genetic disease, hypogonadotropic hypogonadism