Ngaba umntwana wakho ufikisa kade ebutsheni? Ngaba akanalo nevumba? Ngaba yiKallmann Syndrome?

Nangona umntwana wakho emdala kancinci, akabonisi zimpawu zokufikisa njengabahlobo bakhe? Okanye ngaba uqaphele ukuba akaliva ngokwenene ivumba elithile, umzekelo, ivumba leentyatyambo okanye lokutya? Izinto ezinje zinokubangela ixhala kunye nokukhathazeka kancinci ezingqondweni zethu njengabazali. Yiyo loo nto, namhlanje siza kuthetha ngemeko ebonisa ezi mpawu, kodwa engathethwa kakhulu ngayo kuluntu, kodwa kubaluleke kakhulu ukuba siyiqaphele. Leyo yimeko ebizwa ngokuba yiKallmann Syndrome .

Yintoni le Kallmann Syndrome?

Ngamafutshane, iKallmann Syndrome sisifo esingaqhelekanga semfuza . Eyona nto iphambili eyenzekayo koku kukuba ukufikisa komntwana kulibaziseka kakhulu . Kwezinye iimeko, ukufikisa kunokuphela ngokupheleleyo. Ukongeza, abantu abaninzi abanale meko banokulahlekelwa kakhulu okanye ngokupheleleyo kukuva ivumba . Sikwabiza oku ngokuthi "anosmia" ngokwezonyango.

Isizathu sale meko kukuba ngelixa umntwana esesesibelekweni sikanina, kukho utshintsho oluthile oluvela kwiijini ezithile ezinxulumene nokukhula komzimba wakhe. Cinga ngayo njengempazamo encinci kwinkqubo yekhompyutha. Ngamanye amaxesha olu tshintsho lwejini lunokufunyanwa kubazali ukuya ebantwaneni. Oko kukuthi, umntwana ufumana olu phawu lwejini kumama okanye kutata. Nangona kunjalo, kwezinye iimeko, oogqirha bathi olu tshintsho lwejini lunokwenzeka ngokungacwangciswanga, ngaphandle kwembali ecacileyo yosapho.

Le meko ixhaphake kakhulu kubafana kunamantombazana. Ngokwesiqhelo, abazali noogqirha bayinika ingqalelo ngakumbi xa umntwana efikisa kade ngendlela engaqhelekanga. Ke ngoko, amaxesha amaninzi, iKallmann Syndrome ifunyaniswa phakathi kweminyaka esi-8 neli-15.

Oogqirha ngamanye amaxesha basebenzisa elinye igama kule meko, eliyi- "hypogonadotropic hypogonadism" . Nangona oku kunokuvakala kuyinkimbinkimbi kancinci, kuthetha nje ukuba amasende kumakhwenkwe kunye namaqanda kumantombazana awavelisi ngokwaneleyo iihomoni zesini ezibalulekileyo ekukhuleni nasekusebenzeni ngokwesondo. Uyayiqonda? Kuthetha ukuba kukho uhlobo oluthile lokusilela kwinkqubo yeehomoni.

Zithini iimpawu ze-Kallmann syndrome?

Ngoku makhe sibone ukuba zeziphi iimpawu ezibonakaliswa ngumntu oneKallmann Syndrome. Ezinye zezi mpawu zinokubonakala ebuntwaneni, kwaye ezinye zinokubonakala nasemva kokuba umntu emdala. Asinguye wonke umntu oza kuba neempawu ezifanayo.

Eyona nto iphambili ziimpawu ezinxulumene nokufikisa:

• Kumantombazana, uphuhliso lwamabele alukho kwaphela okanye alukho kangako .
• YamantombazanaUkuya exesheni (ukuya exesheni) kusenokungenzeki konke konke, okanye kungenzeki emva kwexesha elide kunesiqhelo kwaye kungenzeki ngendlela engaqhelekanga.
• Ipenisi kunye namasende abafana bancinci kunesiqhelo .
• Ukungazali kukuncipha okanye ukulahleka kwamandla okufumana abantwana kumadoda nakubafazi xa sele bekhulile.

Ukongeza, ezinye iimpawu ezinokubonwa:

• Ukulahlekelwa ngokupheleleyo kwemvakalelo yokuvumba (anosmia) okanye ukungakwazi ukuvumba kakuhle lolunye uphawu lwe-Kallmann syndrome.
• Abanye abantu banokuba neengxaki zokulinganisela xa behamba okanye bema .
• Kunqabile kakhulu ukuba kubekho i-cleft palate , oko kukuthi, i-congenital cleft kwi-palate ephezulu.
• Iingxaki zamazinyo , umzekelo, amazinyo angekhoyo okanye amazinyo amancinci ngokungaqhelekanga (iingxaki zamazinyo).
• Iingxaki zokunyakaza kwamehlo , njenge-nystagmus, imeko apho amehlo ahamba ngokukhawuleza nangokungalawulekiyo.
• Ukuhlala ndiziva ndidiniwe kakhulu (Ukudinwa) .
• Abafazi baya exesheni ngendlela engaqhelekanga .
• Umnqweno wesondo ophantsi .
• Utshintsho olukhawulezileyo kwimo yengqondo , ngamanye amaxesha oluhamba neemvakalelo ezihlala zihleli zokuxhalaba, usizi nomsindo.
• Kunqabile kakhulu ukuba imeko ebizwa ngokuba yi- "Renal agenesis" izalwe ingenaso isintso esinye .
• Abanye abantu baba nokugoba komqolo (Scoliosis) .
• Ukunyuka kobunzima ngaphandle kwesizathu esicacileyo .

Into ebalulekileyo kukuba ayinguye wonke umntu onazo zonke ezi mpawu. Abanye abantu banokulahlekelwa nayimvakalelo yabo yokuvumba. Kwiimeko ezinjalo, oogqirha babiza imeko ngokuthi ``normosmic idiopathic hypogonadotropic hypogonadism (nIHH)``. Oku kuthetha ukuba imvakalelo yokuvumba iqhelekile, kodwa ingxaki yehomoni ikhona.

Kutheni le meko isenzeka?

Kulungile, ngoku mhlawumbi uyazibuza, 'Kutheni oku kusenzeka? Yintoni unobangela oyintloko?' Eyona nto iphambili yeKallmann Syndrome kukutshintsha okanye iziphene ezithile kwezinye zezakhi zofuzo emizimbeni yethu . Olu tshintsho luphazamisa iinkqubo ezintsonkothileyo ezilawula ukufikisa komntwana, eziqala engqondweni.

Ngokwesiqhelo, le nkqubo yokufikisa iqala kwi-gland ebaluleke kakhulu engqondweni yomntwana ebizwa ngokuba yi-hypothalamus, ekhupha i-hormone i-Gonadotropin-Releasing Hormone (GnRH).Ngokuveliswa kwekhemikhali ebizwa ngokuba yi-. Cinga ngayo le `(GnRH)` ifana ne-`master switch`` eqala yonke inkqubo yokufikisa. Kumntwana one-Kallmann syndrome, i-hypothalamus ayivelisi ngokwaneleyo le `(GnRH)` hormone, okanye mhlawumbi ayivelisi kwaphela. Ngoko ke, ngenxa yokuba loo `master switch`` ayivuliwe, inkqubo yokufikisa ayiqali ngokufanelekileyo.

Le hormone `(GnRH)` yiyo enceda ekukhuleni ngokwesondo, umnqweno wesondo, kunye nokukwazi ukuba nabantwana kwixesha elizayo (ukuzala). Le hormone ihamba ngegazi ukuya kwi-pituitary gland, enye i-gland ebalulekileyo engqondweni. I-hormone `(GnRH)` emva koko inika i-pituitary gland imiqondiso ukuba ivelise ezinye ii-hormone ezimbini. Ezi zezi:

• Ihomoni evuselela i-follicle (FSH)
• I-hormone ye-Luteinizing (LH)

Ezi homoni zimbini, `(FSH)` kunye `(LH)`, ziya ngqo kuma-ovari amantombazana kunye nama-testicles amakhwenkwe, ziwanceda ukuba avelise iihomoni zesondo (ezifana ne-estrogen kunye ne-testosterone) kwaye zibangele uphuhliso ngokwesondo. Ngoko ke, xa kungekho `(GnRH)`, lonke eli khonkco liyaphazamiseka.

Isizathu sokungabikho kwevumba sikwanxulumene nolu tshintsho lwemfuza. Ezinye iinguqu zemfuza zichaphazela nokukwazi kwengqondo yomntwana ukuvumba. Ngokwesiqhelo, iiseli zemithambo-luvo ezikwimpumlo yethu zibona ivumba elahlukileyo kwaye zithumela olo lwazi kwibhalbhu yevumba ebuchotsheni (inxalenye yengqondo enoxanduva lokuvumba). Kwi-Kallmann syndrome, kukho ingxaki ngophuhliso lwezi seli zemithambo-luvo ezivumbayo okanye unxibelelwano lwazo ebuchotsheni. Ngenxa yoko, imiqondiso malunga nevumba ayifikeleli kakuhle ebuchotsheni.

Injani impembelelo yemfuza?

Abaphandi ngoku bafumanise iinguqulelo ezingaphezu kwama-25 zemfuza ezibangela i-Kallmann syndrome kunye nezinye iimeko ze-"hypogonadotropic hypogonadism". Oku kuthetha ukuba le meko isenokuba ibangelwa zi-gene ezingaphezu kwesinye. Kwezi, ii-gene ezininzi zifunyenwe zidibene kakhulu nale meko:

• `KAL1 (ANOS1)`
• `CHD7`
• `FGFR1`
• `I-GNRHR`
• `IL17RD`
• `PROK2`
• `SOX10`
• ``TACR3''

Olu tshintsho lwemfuza lwenzeka ngexesha losana olusandul’ ukuzalwa, oko kukuthi, ngelixa umntwana esesesibelekweni sikanina. Ngamanye amaxesha olu tshintsho lunokwenzeka ngokungacwangciswanga, ngaphandle kwesizathu. Nangona kunjalo, kwiimeko ezininzi, olu tshintsho lunokufunyanwa kubazali ukuya ebantwaneni.

Kukho iindlela ezahlukeneyo ezi nguqu zemfuza ezidluliselwa ngazo ebantwaneni. Ezi ndlela sizibiza ngokuba ziipateni zelifa :

• Ilifa le-Autosomal recessive: Kule meko, bobabini abazali bathwala utshintsho lwe-genetic (oko kuthetha ukuba abanazo iimpawu, kodwa bane-gene enesiphene). Ukuze umntwana abe nale meko, bobabini abazali kufuneka bazuze zombini iikopi ze-gene enesiphene.
• I-Autosomal dominant inheritance: Le meko inokwenzeka nokuba umntwana ufumana ikopi enye ye-gene enesiphene komnye umzali (nokuba ngumama okanye ngutata).
• Ilifa elidityaniswe ne-X: Kule meko, i-gene enesiphene ikwi-chromosome ye-X. Oku kunokuchaphazela ngakumbi amadoda.

Nangona ezi ziinyaniso zonyango ezinzulu, ndicinga ukuba zibalulekile ukuze kufunyanwe umbono ocacileyo wendlela esi sifo esinokudluliselwa ngayo ukusuka kwisizukulwana ukuya kwesinye ngokusebenzisa iijini.

Zeziphi iingxaki ezinokubangela oku?

Ukufikisa komntwana linyathelo elibalulekileyo ekukhuleni kwakhe ngokwasemzimbeni nangokwengqondo. I-Kallmann Syndrome inokuthintela umntwana ekufikeleleni kuloo nqanaba njengoko kulindelekile. Oku kuthetha ukuba uphuhliso lomntwana ngokwesondo lunokulibaziseka xa kuthelekiswa nabanye abantwana abaneminyaka efanayo, okanye lunokuyeka ngokupheleleyo.

Khawuthelekelele, xa umntwana omncinci enabanye abahlobo abalingana naye, kunzima kangakanani ukubona ukuba imizimba yabahlobo bakhe iyatshintsha (njengokukhula ibe nde, ukutshintsha ilizwi lakhe, ukukhulisa iindevu, ukukhula kwamabele), kodwa awabo akatshintshi? Basenokuziva beneentloni kwaye bengento yanto ngenkangeleko yabo. Basenokuziva ngathi bahlukile kwaye bahlukanisiwe nabanye. Ngenxa yezinto ezinje, umntwana unokuba neengxaki zengqondo ezifana nokudakumba okanye ukuxhalaba okukhulu . Kunokuba nzima ukunxibelelana nabanye esikolweni nakuluntu.

Kungoko ke, kubaluleke kakhulu ukunika umntwana onesi sifo unyango lomzimba, kunye nokunyamekela impilo yakhe yengqondo, kunye nokunika iingcebiso ukuba kuyimfuneko . Inkxaso yabazali nootitshala nayo ixabiseke kakhulu apha.

Oogqirha bayifumana njani le nto?

Ngokwesiqhelo, ukuba unenkxalabo malunga nokukhula komntwana wakho, umzekelo, ukuba akakaqali ukubonisa iimpawu zokufikisa xa eneminyaka eli-13 ukuya kweli-14 ubudala, uya kuqala uye kugqirha wabantwana. Okanye, ungaya kugqirha we-endocrinologist.

Into yokuqala eyenziwa ngugqirha kukwenza uvavanyo olucokisekileyo lomzimba womntwana. Oko kukuthi, bajonga ubude, ubunzima, kunye neempawu zokufikisa (ezifana nokukhula kwamabele kunye nokukhula kwesini). Emva koko babuza umntwana kunye nawe (abazali) malunga notshintsho lomzimba oludla ngokufunyanwa ngabantwana phakathi kweminyaka esi-8 neli-15. Basenokubuza nokuba kukho nabani na kusapho oye walibazisa ukufikisa okanye akakafiki kwaphela. Baza kubuza nokuba kukho ingxaki na ngevumba.

Emva koko, ukuba ugqirha urhanela ukuba uneKallmann Syndrome, unokucebisa iimvavanyo ezininzi, ezifana nezi:

• Uvavanyo lwegazi:Ezi zezinye zezona zilingo zibalulekileyo. Zijonga amanqanaba eehomoni ezahlukeneyo emzimbeni. Ngokukodwa, iihomoni zepituitary esithethe ngazo ngaphambili, ezibizwa ngokuba yi-FSH kunye ne-LH, kunye neehomoni zesini ze-testosterone (kubafana) kunye ne-estrogen (kumantombazana). La manqanaba eehomoni adla ngokuba phantsi kwi-Kallmann syndrome.
• Uvavanyo lokujonga ivumba: Olu luvavanyo olulula. Umntwana unikwa iintlobo ngeentlobo zevumba aqhele ukulifumana (umz. ikofu, isepha, iminti) aze acelwe ukuba azichonge.
• Uvavanyo lwemfuza: Oku kuquka ukukhangela umahluko othile wemfuza kwisampulu yegazi esithethe ngayo ngaphambili enxulunyaniswa ne-Kallmann syndrome. Nangona kunjalo, olu vavanyo alusoloko lwenziwa kwaye lunokubiza kancinci. Lwenziwa kuphela xa kuyimfuneko, emva kwezinye iimvavanyo.
• Ngamanye amaxesha i-MRI scan yobuchopho inokwenziwa ukuze kubonwe ukuba kukho naziphi na iingxaki kwi-hypothalamus kunye ne-pituitary glands, okanye ukuba akukho phuhliso lwebhalbhu yokuhombisa.

Ngaba kukho naluphi na unyango?

Ngethamsanqa, kukho unyango olusebenzayo lwe-Kallmann Syndrome. Unyango oluphambili lunyango lokutshintshwa kweehomoni (HRT) . Oku kuquka ukunika umzimba iihomoni ongazivelisiyo ngokwendalo okanye ozivelisayo ngomlinganiselo ophantsi. Ithemba kukuba olu nyango luya kunceda ekuqaliseni ukufikisa, luphuhlise iimpawu zesondo zesibini (ezifana nokukhula kweenwele zobuso kunye namabele), kwaye luqinise amathambo.

Nangona kunjalo, unyango kunye neentlobo zeehomoni ezinikwayo zinokwahluka kumntu nomntu, kuxhomekeke ekubeni umntwana yinkwenkwe okanye yintombazana, kwaye ngokweminyaka.

Nazi ezinye zezona ndlela zonyango zisetyenziswa kakhulu:

• Kwabafana: I-Testosterone yi-hormone enikwayo. Inganikwa njengeenaliti (malunga kanye ngenyanga), njengeepatches zesikhumba, okanye njengeejeli zesikhumba ezisetyenziswa yonke imihla .
• Kumantombazana: I-estrogen inikwa kuqala. Kamva, idityaniswa neprogesterone ukuze ibangele ukuya exesheni. Ezi zinokunikwa njengeepilisi okanye njengeepatshi zesikhumba.
• Ngamanye amaxesha, ingakumbi kubantu abadala abaceba ukuba nabantwana, unyango olusebenzisa i-GnRH hormone pump okanye i-injection yee-hormone ezifana ne-FSH kunye ne-LH, ezifana ne -HCG (i-human chorionic gonadotropin) kunye ne-hMG (i-human menopausal gonadotropin), lunokunikwa ukukhuthaza i-ovulation (kwabasetyhini) okanye ukuveliswa kwesidoda (kwamadoda).

Emva kokuqalisa olu nyango, ugqirha uza kumhlola rhoqo umntwana, ajonge amanqanaba eehomoni, aze alungise umthamo wonyango njengoko kufuneka.

Yintoni onokuyilindela xa uphila nale meko?

Umntwana onesi sifo unokufuna ukuthatha unyango lokutshintshwa kweehomoni ubomi bakhe bonke okanye ixesha elide . Yimeko eqhelekileyo leyo.

Kodwa iindaba ezimnandi zezokuba amadoda nabafazi abane-Kallmann syndrome banokuphinda bafumane inzala ngonyango olufanelekileyo lweehomoni. Kukho unyango oluthile loku. Amanye amadoda asenokuqhubeka nokuvelisa isidoda emva kokuba unyango luyekisiwe. Oogqirha babiza oku ngokuthi 'yi-Kallmann syndrome eguqukayo' . Kodwa oku akwenzeki kuwo wonke umntu.

Ukukhula nokungena ebusheni lixesha lemingeni emininzi ebomini. Ukuba neKallmann Syndrome kunokwenza loo mceli mngeni ube mkhulu nangakumbi. Oku kunokubangela ukufikisa okulibazisekileyo, okanye ukungabikho ngokupheleleyo ebusheni. Ngoko ke, ukuba umntwana wakho unesi sifo, usenokungaziva utshintsho olufana nolwabontanga bakhe. Oku kunokubangela ukuba azive exhalabile ngenkangeleko yakhe, azive eneentloni, aze azame ukuzikhwebula kwabanye. Basenokuziva ngathi bayashiywa ngaphandle, okanye bahlukile.

Nokuba akukho mhla okanye ixesha elimiselweyo lokufikisa, ukuba unemibuzo okanye iinkxalabo malunga nokukhula komntwana wakho, ingakumbi uphuhliso lwesondo, eyona nto ingcono onokuyenza kukuthetha nogqirha wabantwana okanye ingcali yeehomoni . Banokukuvavanya ngokufanelekileyo wena nomntwana wakho baze bakunike ulwalathiso nonyango olufunekayo.

Umyalezo Wokuya Ekhaya

Kulungile, ngoko ke ngokwezinto esizixubushileyo ngokubanzi, ndiyathemba ukuba unombono olungileyo nocacileyo ngeKallmann Syndrome.

Ngamafutshane, i-Kallmann syndrome yimeko engaqhelekanga yemfuza ebangela ukuba umntu afikelele ebuntwini obukhulu aze angakwazi ukuva ivumba.

• Ingxaki ephambili koku yinkqubo yokuvelisa iihomoni eqala engqondweni.
• Le meko inokuchaphazela amadoda namabhinqa , kodwa ixhaphake kakhulu kubafana.
• Iimpawu zingabandakanya izinto ezinje ngokungabonakalisi zimpawu zokufikisa xa sele uneminyaka eyiyo, ukulahlekelwa okanye ukuncipha kwemvakalelo yokuvumba, iingxaki zamazinyo, kunye neengxaki zokuhamba kwamehlo.
• Unyango lwehomoni lolona nyango luphambili. Olu nyango lunokufuneka ubomi bonke.
• Unyango lunokubangela ukufikisa kwaye lubuyisele amandla okufumana abantwana .
• Inkxaso yengqondo kunye neengcebiso zibaluleke kakhulu kubantwana nakubantu abadala abanale meko.
• Ukuba unamathandabuzo malunga nokufikisa komntwana wakho, musa ukulibazisa uye kubona ugqirha . Okukhona ufunyaniswa ngokukhawuleza, kokukhona kulula ukuqala unyango kwaye unciphise iingxaki ezinokubakho.

Sinethemba lokuba olu lwazi lube luncedo kuwe. Khumbula, awuwedwa kolu hambo. Kukho oogqirha nabacebisi abanobuchule eSri Lanka ukunceda nokukhokela abo bajongene neemeko ezifanayo.

I- Kallmann Syndrome, ukufikisa okulibazisekileyo, ukulahlekelwa yimvakalelo yokuvumba, i-anosmia, iingxaki zehomoni, izifo zemfuza, i-hypogonadotropic hypogonadism