Ingabe ingane yakho isiphuze ukufika ebusheni? Ingabe ayinalo nhlobo iphunga? Ingabe kungaba yi-Kallmann Syndrome?

Ngisho noma ingane yakho isikhulile kancane, ayibonisi yini izimpawu zokuthomba njengabangane bayo? Noma uke waphawula ukuthi ayizwani ngempela nephunga elithile, isibonelo, iphunga lezimbali noma ukudla? Izinto ezinjengalezi zingabangela ukukhathazeka okuncane kanye nokukhathazeka ezingqondweni zethu njengabazali. Yingakho, namuhla sizokhuluma ngesimo esibonisa lezi zimpawu, kodwa okungakhulunywa ngaso kakhulu emphakathini, kodwa kubaluleke kakhulu ukuqaphela. Leso yisimo esibizwa ngokuthi i-Kallmann Syndrome .

Iyini le Kallmann Syndrome?

Kalula nje, i-Kallmann Syndrome iyisimo esingavamile sofuzo . Into eyinhloko eyenzekayo kulokhu ukuthi ukuthomba kwengane kuyephuza kakhulu . Kwezinye izimo, ukuthomba kungaphela ngokuphelele. Ngaphezu kwalokho, abantu abaningi abanalesi simo banokulahlekelwa okuncane kakhulu noma okuphelele kwemizwa yokuhogela . Siphinde sikubize ngokuthi "i-anosmia" ngokwezokwelapha.

Isizathu salesi simo ukuthi ngenkathi ingane isesesibelethweni sikanina, kwenzeka izinguquko ezithile kwezinye izakhi zofuzo ezihlobene nokukhula komzimba wayo. Cabanga ngakho njengephutha elincane ohlelweni lwekhompyutha. Ngezinye izikhathi lezi zinguquko zezakhi zofuzo zingazuzwa njengefa kubazali ziye ezinganeni. Okusho ukuthi, ingane ithola lesi sici sezakhi zofuzo kumama noma kuyise. Kodwa-ke, kwezinye izimo, odokotela bathi lezi zinguquko zezakhi zofuzo zingenzeka ngokungahleliwe, ngaphandle komlando ocacile womndeni.

Lesi simo sivame kakhulu kubafana kunamantombazane. Ngokuvamile, abazali nodokotela banaka kakhulu lapho ukuthomba kwengane sekwephuzile ngendlela engavamile. Ngakho-ke, ngokuvamile, i-Kallmann Syndrome itholakala iphakathi kweminyaka engu-8 nengu-15.

Odokotela ngezinye izikhathi basebenzisa elinye igama lalesi simo, elithi "hypogonadotropic hypogonadism" . Nakuba lokhu kungase kuzwakale kuyinkimbinkimbi kancane, kusho ukuthi amasende kubafana kanye nama-ovari emantombazaneni awakhiqizi ama-hormone ocansi anele abalulekile ekuthombeni nasekusebenzeni kocansi. Uyakuqonda? Kusho ukuthi kukhona uhlobo oluthile lokuntuleka ohlelweni lwama-hormone.

Ziyini izimpawu ze-Kallmann syndrome?

Manje ake sibone ukuthi yiziphi izimpawu eziboniswa umuntu one-Kallmann Syndrome. Ezinye zalezi zimpawu zingabonakala ebuntwaneni, kanti ezinye zingavela ngisho nangemva kokuba umuntu emdala. Akuwona wonke umuntu ozoba nezimpawu ezifanayo.

Into eyinhloko izici ezihlobene nokuthomba:

• Emantombazaneni, ukukhula kwamabele akukho nhlobo noma kuncane kakhulu .
• KwamantombazaneUkuya esikhathini (ukuya esikhathini) kungase kungenzeki nhlobo, noma kungase kwenzeke sekwephuzile kakhulu kunokuvamile futhi kungajwayelekile.
• Ipenisi namasende abafana bancane kunokujwayelekile .
• Ukungazali ukuncipha noma ukulahlekelwa ikhono lokuzala abantwana kwabesilisa nabesifazane ngesikhathi sobudala.

Ngaphezu kwalokho, ezinye izici ezingabonakala:

• Ukulahlekelwa ngokuphelele kwenzwa yokuhogela (i-anosmia) noma umuzwa wokuhogela onciphile kakhulu kungenye isici se-Kallmann syndrome.
• Abanye abantu bangase babe nezinkinga zokulinganisela lapho behamba noma bema .
• Akuvamile kakhulu ukuthi kube nokuqhekeka komlomo , okungukuthi, ukuqhekeka kokuzalwa emlonyeni ongaphezulu.
• Izinkinga zamazinyo , isibonelo, amazinyo angekho noma amazinyo amancane ngendlela engavamile (ukukhubazeka kwamazinyo).
• Izinkinga zokunyakaza kwamehlo , njenge-nystagmus, okuyisimo lapho amehlo ehamba khona ngokushesha nangokungalawuleki.
• Ukuzizwa ukhathele kakhulu njalo (Ukukhathala) .
• Abesifazane baya esikhathini ngendlela engajwayelekile .
• Isifiso socansi esiphansi .
• Izinguquko ezingazelelwe zemizwa , ngezinye izikhathi ezihambisana nemizwa evamile yokukhathazeka, ukudabuka, nentukuthelo.
• Akuvamile kakhulu ukuthi isimo esibizwa ngokuthi "i-Renal agenesis" sizalwe singenayo inso eyodwa .
• Abanye abantu baba nokugoba komgogodla (i-Scoliosis) .
• Ukwanda kwesisindo ngaphandle kwesizathu esicacile .

Into ebalulekile ukuthi akuwona wonke umuntu onazo zonke lezi zimpawu. Abanye abantu bangase balahlekelwe ngisho nokuzwa iphunga. Ezimweni ezinjalo, odokotela babiza lesi simo ngokuthi ``normosmic idiopathic hypogonadotropic hypogonadism (nIHH)``. Lokhu kusho ukuthi ukuzwa iphunga kuyinto evamile, kodwa inkinga yama-hormone ikhona.

Kungani lesi simo senzeka?

Kulungile, manje cishe uyazibuza, 'Kungani lokhu kwenzeka? Iyini imbangela eyinhloko?' Imbangela eyinhloko ye-Kallmann Syndrome izinguquko noma amaphutha athile kwezinye zezakhi zofuzo emzimbeni wethu . Lezi zinguquko ziphazamisa izinqubo eziyinkimbinkimbi ezilawula ukuthomba kwengane, eziqala ebuchosheni.

Ngokuvamile, le nqubo yokuthomba iqala endlaleni ebaluleke kakhulu ebuchosheni bomntwana ebizwa ngokuthi i-hypothalamus, ekhipha i-hormone i-Gonadotropin-Releasing Hormone (GnRH).Ngokukhiqizwa kwekhemikhali ebizwa ngokuthi. Cabanga ngalokhu `(GnRH)` kufana ``i-master switch`` eqala yonke inqubo yokuthomba. Enganeni ene-Kallmann syndrome, i-hypothalamus ayikhiqizi ngokwanele le hormone `(GnRH)`, noma mhlawumbe ayikhiqizi nhlobo. Ngakho-ke, ngenxa yokuthi leyo ``master switch`` ayivuliwe, inqubo yokuthomba ayiqali kahle.

Le hormone `(GnRH)` yiyo esiza ekuvuthweni kocansi, isifiso socansi, kanye nekhono lokuba nabantwana esikhathini esizayo (ukuzala). Le hormone ihamba ngegazi iye endlaleni ye-pituitary, enye indlala ebalulekile ebuchosheni. I-hormone `(GnRH)` ibe isitshela indlala ye-pituitary ukuthi ikhiqize amanye ama-hormone amabili. Lawa:

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

Lawa ma-hormone amabili, `(FSH)` kanye `(LH)`, aya ngqo kuma-ovari amantombazane kanye nama-testicles abafana, abasize ukuthi bakhiqize ama-hormone ocansi (njenge-estrogen kanye ne-testosterone) futhi abangele ukukhula kocansi. Ngakho-ke, uma kungekho `(GnRH)`, lonke lolu chungechunge luyaphazamiseka.

Isizathu sokuntuleka kwephunga sihlobene nalezi zinguquko zezakhi zofuzo. Ezinye izinguquko zezakhi zofuzo zithinta nekhono lobuchopho bengane lokuhogela. Ngokuvamile, amangqamuzana ezinzwa ezinukayo ekhaleni lethu abona iphunga elihlukile bese ethumela lolo lwazi kubhamuza elinukayo ebuchosheni (ingxenye yobuchopho ebangela iphunga). Ku-Kallmann syndrome, kunenkinga ngokuthuthukiswa kwala maseli ezinzwa ezinukayo noma ukuxhumana kwawo nobuchopho. Ngenxa yalokho, izimpawu mayelana nephunga azifinyeleli kahle ebuchosheni.

Ithonya lezakhi zofuzo linjani?

Abacwaningi manje sebethole ukwehlukahlukana kwezakhi zofuzo okungaphezu kuka-25 okubangela i-Kallmann syndrome kanye nezinye izimo ze-"hypogonadotropic hypogonadism". Lokhu kusho ukuthi lesi simo kungenzeka sibangelwa izakhi zofuzo ezingaphezu kweyodwa. Kulezi, izakhi zofuzo eziningana zitholakale zihlobene kakhulu nalesi simo:

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

Lezi zinguquko zofuzo zenzeka ngesikhathi sokukhulelwa, okungukuthi, ngesikhathi ingane isesesibelethweni sikanina. Ngezinye izikhathi lezi zinguquko zingenzeka ngokungahleliwe, ngaphandle kwesizathu. Kodwa-ke, ezimweni eziningi, lezi zinguquko zingazuzwa njengefa kubazali ezinganeni.

Kunezindlela eziningana lapho lezi zinguquko zofuzo zidluliselwa khona ezinganeni. Sibiza lezi zindlela zofuzo ngokuthi:

• Ifa le-Autosomal recessive: Kulesi simo, bobabili abazali bangabathwali bokuhlukahluka kwezakhi zofuzo (okusho ukuthi abanazo izimpawu, kodwa banezakhi zofuzo ezinephutha). Ukuze ingane ibe nalesi simo, bobabili abazali kumele bazuze amakhophi womabili ezakhi zofuzo ezinephutha.
• Ifa eliyi-Autosomal dominant: Lesi simo singase senzeke noma ngabe ingane izuza ikhophi eyodwa yesakhi sofuzo esingalungile komunye umzali (kungaba umama noma ubaba).
• Ifa elixhunywe ku-X: Kulesi simo, i-gene enephutha ikwi-chromosome ye-X. Lokhu kungathinta kakhulu abesilisa.

Nakuba lokhu kungamaqiniso ezokwelapha ajulile, ngicabanga ukuthi kubalulekile ukuthola umbono oqondile wokuthi lesi simo singadluliselwa kanjani kusuka esizukulwaneni kuya kwesinye ngokusebenzisa izakhi zofuzo.

Yiziphi izinkinga ezingabangelwa yilokhu?

Ukuthomba kwengane kuyisinyathelo esibaluleke kakhulu ekukhuleni kwayo ngokomzimba nangokwengqondo. I-Kallmann Syndrome ingavimbela ingane ekufinyeleleni leso sinyathelo njengoba kulindelekile. Lokhu kusho ukuthi intuthuko yocansi yengane ingase ibambezeleke uma iqhathaniswa nezinye izingane ezineminyaka efanayo, noma ingaze ime ngokuphelele.

Cabanga nje, lapho ingane encane inabanye abangane abangontanga yayo, ukuthi kumelwe ukuba kunzima kangakanani ukubona ukuthi imizimba yabangane bayo iyashintsha (njengokukhula ibe yinde, ukushintsha izwi layo, ukukhulisa intshebe, ukukhula kwamabele), kodwa awabo awashintshi? Bangase bazizwe benamahloni futhi bengelutho ngokubukeka kwabo. Bangase bazizwe sengathi bahlukile futhi bahlukanisiwe nabanye. Ngenxa yezinto ezinjengalezi, ingane inamathuba amaningi okuthola izinkinga zengqondo njengokucindezeleka noma ukukhathazeka okukhulu . Kungase kube nzima ukuxhumana nabanye esikoleni nasemphakathini.

Ngakho-ke, kubaluleke kakhulu ukunikeza ukwelashwa ngokomzimba kwengane enalesi simo, kanye nokunakekela impilo yayo yengqondo, kanye nokunikeza iseluleko uma kudingeka . Ukusekelwa kwabazali nothisha nakho kubaluleke kakhulu lapha.

Odokotela bakuthola kanjani lokhu?

Ngokuvamile, uma unenkinga mayelana nokukhula kwengane yakho, isibonelo, uma ingakaqali ukubonisa izimpawu zokuthomba lapho ineminyaka engu-13-14, uzoqala ngokuya kudokotela wezingane. Ngaphandle kwalokho, ungase futhi ubonane nodokotela we-endocrinologist.

Into yokuqala udokotela ayenzayo ukuhlola ingane ngokomzimba . Okusho ukuthi, bahlola ukuphakama, isisindo, kanye nezimpawu zokuthomba (njengokukhula kwamabele kanye nokukhula kwezitho zangasese). Bese bebuza ingane kanye nawe (abazali) ngezinguquko zomzimba izingane ezivame ukuzizwa phakathi kweminyaka engu-8 nengu-15. Bangase futhi babuze ukuthi kukhona yini emndenini oye wathomba isikhathi eside noma akakadluli nhlobo ekuthombeni. Bazobuza nokuthi ngabe kukhona yini inkinga ngenzwa yokuhogela.

Uma udokotela esola ukuthi une-Kallmann Syndrome, angase ancome ukuhlolwa okuningana, okufana nalokhu:

• Ukuhlolwa kwegazi:Lokhu kungenye yezivivinyo ezibaluleke kakhulu. Kubheka amazinga ama-hormone ahlukahlukene emzimbeni. Ngokukhethekile, ama-hormone e-pituitary esikhulume ngawo ngaphambili, abizwa ngokuthi i-FSH ne-LH, kanye nama-hormone ocansi i-testosterone (kubafana) kanye ne-estrogen (kwamantombazane). Lawa mazinga ama-hormone avame ukuba phansi ku-Kallmann syndrome.
• Ukuhlolwa kokuhlola umuzwa wokuhogela: Lokhu ukuhlolwa okulula. Ingane inikwa iphunga elihlukahlukene elijwayelekile (isib. ikhofi, insipho, i-mint) bese icelwa ukuthi ilibone.
• Ukuhlolwa kwezakhi zofuzo: Lokhu kuhilela ukufuna ukuhlukahluka kwezakhi zofuzo ezithile kusampula yegazi esikhulume ngayo ngaphambilini ehlotshaniswa ne-Kallmann syndrome. Kodwa-ke, lokhu kuhlolwa akwenziwa njalo futhi kungabiza kancane. Kwenziwa kuphela uma kudingeka, ngemva kokunye ukuhlolwa.
• Ngezinye izikhathi kungenziwa i-MRI scan yobuchopho ukuze kubonakale ukuthi kukhona yini izinkinga nge-hypothalamus kanye ne-pituitary glands, noma ukuthi kukhona yini ukuntuleka kokuthuthukiswa kwe-olfactory bulb.

Ingabe kukhona ukwelashwa?

Ngenhlanhla, kunezindlela zokwelapha ezisebenzayo ze-Kallmann Syndrome. Ukwelashwa okuyinhloko ukwelashwa kokufaka esikhundleni sama-hormone (HRT) . Lokhu kuhilela ukunikeza umzimba ama-hormone ongawakhiqizi ngokwemvelo noma akhiqizwa ngobuningi obuphansi. Ithemba liwukuthi lezi zindlela zokwelapha zizosiza ekuqaleni kokuthomba, zithuthukise izici zocansi zesibili (njengezinwele zobuso nokukhula kwamabele), futhi ziqinise amathambo.

Kodwa-ke, ukwelashwa kanye nezinhlobo zama-hormone ezinikezwayo kungahluka kumuntu nomuntu, kuye ngokuthi ingane ingumfana noma intombazane, kanye nangobudala.

Nazi ezinye zezindlela zokwelapha ezisetshenziswa kakhulu:

• Kwabafana: I-Testosterone yi-hormone enikezwayo. Inganikezwa njengomjovo (cishe kanye ngenyanga), njengamabala esikhumba, noma njengamajeli esikhumba asetshenziswa nsuku zonke .
• Kwamantombazane: I-estrogen inikezwa kuqala. Kamuva, ihlanganiswa ne -progesterone ukuze ibangele ukuya esikhathini. Lokhu kunganikezwa njengamaphilisi noma njengezibazi zesikhumba.
• Ngezinye izikhathi, ikakhulukazi kubantu abadala abahlela ukuba nezingane, ukwelashwa ngephampu yehomoni ye-GnRH noma imijovo yamahomoni afana ne-FSH ne-LH, njenge -HCG (i-human chorionic gonadotropin) kanye ne-hMG (i-human menopausal gonadotropin), kunganikezwa ukuze kukhuthazwe ukuvuthwa kwamaqanda (kwabesifazane) noma ukukhiqizwa kwesidoda (kwabesilisa).

Ngemva kokuqala lokhu kwelashwa, udokotela uzohlola ingane njalo, ahlole amazinga ama-hormone, bese elungisa umthamo wokwelashwa njengoba kudingeka.

Yini ongayilindela uma uphila nalesi simo?

Ingane enalesi simo ingadinga ukuthatha ukwelashwa kokushintsha ama-hormone impilo yayo yonke noma isikhathi eside . Leso yisimo esivamile.

Kodwa izindaba ezinhle ukuthi bobabili abesilisa nabesifazane abane-Kallmann syndrome bangaphinde bathole inzalo ngokwelashwa kwama-hormone okufanele. Kunezindlela ezithile zokwelapha lokhu. Amanye amadoda angase aqhubeke nokukhiqiza isidoda ngemva kokuba ukwelashwa kuyekiwe. Odokotela bakubiza ngokuthi 'i-Kallmann syndrome eguquguqukayo' . Kodwa lokhu akwenzeki kuwo wonke umuntu.

Ukukhula nokungena ebusheni yisikhathi sezinselele eziningi empilweni. Ukuba ne-Kallmann Syndrome kungenza leyo nselele ibe nkulu nakakhulu. Lokhu kungabangela ukubambezeleka kokuthomba, noma ngisho nokungabikho ngokuphelele kokuthomba. Ngakho-ke, uma ingane yakho inalesi sifo, ingase ingazizwa izinguquko zomzimba ezitholwa ontanga yayo. Lokhu kungayenza ikhathazeke ngokubukeka kwayo, izizwe inamahloni, futhi izame ukuzihlukanisa nabanye. Ingase izizwe sengathi ishiywa ngaphandle, noma ukuthi ihlukile.

Ngisho noma kungekho usuku noma isikhathi esibekiwe sokuthomba, uma unemibuzo noma ukukhathazeka mayelana nokukhula kwengane yakho, ikakhulukazi ukukhula kocansi, into engcono kakhulu ongayenza ukukhuluma nodokotela wezingane noma uchwepheshe wama-hormone . Bangakuhlola kahle wena nengane yakho futhi banikeze isiqondiso nokwelashwa okudingekayo.

Umlayezo Wokuya Nawe Ekhaya

Kulungile, ngakho-ke kusukela kulokho esesixoxe ngakho kabanzi, ngithemba ukuthi unombono omuhle nocacile nge-Kallmann Syndrome.

Ngamafuphi, i-Kallmann syndrome iyisimo esingavamile sofuzo esibambezela kakhulu ukuthomba futhi ngokuvamile siholela ekulahlekelweni yimizwa yokuhogela.

• Inkinga enkulu kulokhu uchungechunge lokukhiqizwa kwama-hormone oluqala ebuchosheni.
• Lesi simo singathinta abesilisa nabesifazane , kodwa sivame kakhulu kubafana.
• Izimpawu zingase zihlanganise izinto ezifana nokungabonakalisi izimpawu zokuthomba eneminyaka efanele, ukulahlekelwa noma ukuncipha kwemizwa yokuhogela, izinkinga zamazinyo, kanye nezinkinga zokunyakaza kwamehlo.
• Ukwelashwa ngama-hormone kuyindlela eyinhloko yokwelapha. Lokhu kwelashwa kungadingeka impilo yonke.
• Ukwelashwa kuvame ukuholela ekuthombeni futhi kubuyisele ikhono lokuba nezingane .
• Ukusekelwa kwengqondo kanye nokwelulekwa nakho kubaluleke kakhulu ezinganeni nakubantu abadala abanalesi simo.
• Uma unokungabaza ngokuthomba kwengane yakho, ungalibali ukubona udokotela . Uma kusheshe kwatholakala ukuthi ikhona, kuba lula ukuqala ukwelashwa nokunciphisa izinkinga ezingaba khona.

Sithemba ngobuqotho ukuthi lolu lwazi lube usizo kuwe. Khumbula, awuwedwa kulolu hambo. Kukhona odokotela nabeluleki abanekhono eSri Lanka ukusiza nokuqondisa labo ababhekene nezimo ezifanayo.

I- Kallmann Syndrome, ukubambezeleka kokuthomba, ukulahlekelwa umuzwa wokuhogela, i-anosmia, izinkinga zamahomoni, izifo zofuzo, i-hypogonadotropic hypogonadism