Yu pikin kin let fɔ rich di tɛm we i fɔ bɔn? Yu nɔ tink se i ivin gɛt sɛns fɔ smɛl? Yu tink se na di sik we dɛn kɔl Kallmann Syndrome?

Pan ɔl we yu pikin dɔn big smɔl, yu nɔ tink se i de sho sayn dɛn we de sho se i dɔn yɔŋ lɛk in padi dɛn? Ɔ yu dɔn notis se i nɔ kin rili smɛl sɔm smel dɛn, fɔ ɛgzampul, di smel fɔ flawa ɔ it? Tin dɛn lɛk dis kin mek wi gɛt smɔl wɔri ɛn wɔri na wi maynd as mama ɛn papa. Na dat mek, tide wi go tɔk bɔt wan kɔndishɔn we de sho dɛn kayn sik ya, bɔt dɛn nɔ kin tɔk bɔt am bɔku na sosayti, bɔt i rili impɔtant fɔ no bɔt. Dat na wan sik we dɛn kɔl Kallmann Syndrome .

Wetin na dis Kallmann Syndrome?

Fɔ tɔk am simpul wan, di sik we dɛn kɔl Kallmann Syndrome na wan sik we nɔ kin apin so ɔltɛm . Di men tin we kin apin pan dis na dat di pikin in puberty kin delay bad bad wan . Sɔntɛnde, di tɛm we pɔsin de bɔn kin stɔp ɔltogɛda. Apat frɔm dat, bɔku pipul dɛn we gɛt dis sik kin rili ridyus ɔ nɔ kin ebul fɔ smɛl igen . Wi kin kɔl dis bak ``anosmia'' insay mεdikal tεm dεm.

di rizin fכ dis kכndyushכn na biכs we di pikin stil de na di mama in bεlε, sכm chenj dεm de apin na sכm jin dεm we de rilet to di divεlכpmεnt fכ in bכdi. Tink bɔt am lɛk smɔl mistek na kɔmpyuta program. Sɔntɛnde, dɛn kin gɛt dɛn jɛnɛtik chenj ya frɔm mama ɛn papa to pikin dɛn. Dat min se di pikin kin gɛt dis jenɛtik kwaliti frɔm di mama ɔ di papa. Bɔt sɔm tɛm dɛn de, dɔktɔ dɛn kin se dɛn chenj ya we kin apin na di jɛnɛtiks kin apin wantɛm wantɛm, ɛn dɛn nɔ kin gɛt ɛni klia famili istri.

Dis sik kin kam pan bɔy pikin dɛn pas gyal pikin dɛn. Bɔku tɛm, mama ɛn papa ɛn dɔktɔ dɛn kin pe atɛnshɔn mɔ to am we di pikin kin let we i nɔ kɔmɔn. So, bɔrku tɛm, dɛn kin no bɔt Kallmann Syndrome bitwin 8 ɛn 15 ia.

sכmtεm dכkta dεn kin yuz כda nem fכ dis kכndyushכn, we na ``hypogonadotropic hypogonadism'' . Pan ɔl we dis kin tan lɛk se i kɔmplikt smɔl, i jɔs min se di tɛstikul dɛn na bɔy pikin dɛn ɛn di ovaria dɛn na gyal pikin dɛn nɔ de mek inof pan di sɛks ɔmon dɛn we impɔtant fɔ mek dɛn yɔŋ ɛn fɔ mek dɛn ebul fɔ du mami ɛn dadi biznɛs. Yu get am? I min se sɔm kayn tin de we nɔ de na di ɔmon sistɛm.

Wetin na di sayn dɛm wae de sho se yu gɛt Kallmann syndrome?

Naw lɛ wi si us sayn dɛm pɔrsin wae gɛt Kallmann Syndrome kin sho. Sɔm pan dɛn sayn ya kin si wae dɛn smɔl, ɛn sɔm kin apun ivin afta pɔrsin dɔn big. Nɔto ɔlman go gɛt di sem sayn.

Di men tin na di kwaliti dɛm we gɛt fɔ du wit di tɛm we pɔsin de bɔn:

• pan gyal pikin dεm, di brεst divεlכpmεnt nכ de kכmplit כ i nכ de sכmtεm .
• Fɔ gyal pikin dɛnMenstrueshɔn (menstruation) nɔ kin apin atɔl, ɔ i kin apin leta pas aw i kin bi ɛn i nɔ kin apin ɔltɛm.
• di penis εn di tεstikul dεm fכ bכy pikin dεm sכm sכm pas nכmal .
• Infεtiliti na di rεdכks כ lכs di abiliti fכ bכn pikin na man εn uman dεm we dεn big.

Apat frɔm dat, ɔda tin dɛn we pɔsin kin si:

• Fɔ lɔs di sɛns fɔ smɛl ɔltogɛda (anosmia) ɔ fɔ ridyus di sɛns fɔ smɛl bad bad wan na ɔda tin we de sho se di sik we dɛn kɔl Kallmann syndrome.
• Sɔm pipul dɛn kin gɛt prɔblɛm wit balans we dɛn de waka ɔ tinap .
• Na smɔl tɛm nɔmɔ , wan cleft palata , dat na, wan cleft we dɛn bɔn wit na di ɔpa palata, kin apin.
• Dɛn tit prɔblɛm , fɔ ɛgzampul, we yu nɔ gɛt tit ɔ yu tit we nɔ kɔmɔn (dental abnormalities).
• Prɔblɛm fɔ muv di yay , lɛk nistagmus, we na wan sik we di yay dɛn kin muv kwik kwik wan ɛn we dɛn nɔ kin ebul fɔ kɔntrol.
• Fɔ fil lɛk se yu taya pasmak ɔltɛm (Fatigue) .
• Uman dɛn nɔ kin gɛt mɔnt ɔltɛm .
• Low sex drive .
• I kin chenj wantɛm wantɛm na in maynd , sɔntɛnde i kin kam wit filin fɔ wɔri, sɔri, ɛn vɛks ɔltɛm.
• na sכm tεm, dεn de bכn wan kכndyushכn we dεn kכl ``Renal agenesis`` we nכ gεt wan kidni .
• Sɔm pipul dɛn kin gɛt wan kɔba na dɛn spayna (Scoliosis) .
• We yu de gɛt mɔ wet we yu nɔ gɛt ɛni klia rizin .

De impɔtant tin na dat nɔr to ɔlman gɛt ɔl dɛn sik ya. Sɔm pipul dɛn kin ivin nɔ ebul fɔ smɛl igen. insay dis kayn kes dεm, dכkta dεn kכl di kכndyushכn ``normosmic idiopathic hypogonadotropic hypogonadism (nIHH)``. Dis min se di sɛns fɔ smɛl na nɔmal tin, bɔt di ɔmon prɔblɛm de de.

Wetin mek dis tin kin apin?

Okay, naw yu go mɔs de wɔnda, ‘Wetin mek dis kin apin? Wetin na di rut kɔz?’ Di men tin we kin mek pɔsin gɛt Kallmann Syndrome na sɔm chenj ɔ difrɛn tin dɛn we kin apin na sɔm pan di jin dɛn na wi bɔdi . Dɛn chenj ya kin ambɔg di kɔmpleks tin dɛn we de kɔntrol di pikin in yɔŋ man, we kin bigin na di bren.

nכmal wan, dis prכsεs fכ puberty de bigin insay wan rili imכtant gland na di pikin in bren we dεn kכl di haypothalamus, we de rilis di כmon Gonadotropin-Releasing Hormone (GnRH).Wit di prodakshɔn fɔ wan kemikal we dɛn kɔl. tink bɔt am dis `(GnRH)` lεk di ``masta swich`` we de stat di כl prכsεs fכ puberty. pan pikin we gεt Kallmann sεndrכm, di haypothalamus nכ de prodyuz inof fכ dis `(GnRH)` כmon, כ sכmtεm nכ de prodyuz inof. So, biכs dat ``masta switch`` nכ de ``on``, di prכsεs fכ puberty nכ de stat fayn fayn wan.

dis כmon `(GnRH)` na in de εp fכ machכ fכ sεks, fכ want fכ du mami εn dadi biznεs, εn fכ ebul fכ bכn pikin insay di fכs tεm (fεtiliti). Dis ɔmon de travul tru di blɔd go na di pituitary gland, we na wan ɔda impɔtant gland na di bren. afta dat di `(GnRH)` כmon de signal di pituitary gland fכ prodyuz tu כda כmon dεm. Dɛn na:

• כmon we de mek di fכlikul dεm (FSH) .
• Ɔmon we de mek pɔsin gɛt luteinizing (LH) .

dis tu כmon dεm, `(FSH)` εn `(LH)`, de go dayrekt to di ovaria dεm fכ gyal pikin dεm εn di tεstikul dεm fכ bכy pikin dεm, we de εp dεn fכ mek sεks כmon dεm (lεk εstrojen εn tεstostεron) εn mek dεn de divεlכp sεks. so, we `(GnRH)` nכ de, dis כl chen de disrupt.

Di rizin we mek i nɔ de smɛl kin gɛt fɔ du bak wit dɛn chenj ya we de apin na di jɛnɛtiks. Sɔm chenj dɛn we kin apin na di pikin in jɛnɛtiks kin afɛkt bak di we aw di pikin in bren kin ebul fɔ smɛl. nכmal wan, di olfaktכri nεv sεl dεm na wi nos de no difrεn smεl dεm εn dεn de sεnd da infכmeshכn de to di olfaktכri bulb na di bren (di pat pan di bren we de rεspכns fכ smεl). Insay Kallmann syndrome, prɔblɛm de wit di divɛlɔpmɛnt fɔ dɛn olfactory nerve cells ya ɔ di kɔnekshɔn we dɛn gɛt wit di bren. Dis kin mek di sayn dɛn bɔt aw pɔsin kin smɛl nɔ kin rich na di bren fayn fayn wan.

Aw di tin dɛn we de apin na di jɛnɛtiks de?

Risach pipul dεn dכn no naw mכr dan 25 jεnεtik vεryushכn dεm we de mek Kallmann sεndrכm εn כda ``hypogonadotropic hypogonadism'' kכndishכn dεm. Dis min se i go mɔs bi se na mɔ pas wan jin de mek i gɛt dis sik. pan dεn wan ya, dεn fכnshכn se sεvεra jin dεm de mכst strכng fכ di kכndyushכn:

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

dis jεnεtik chenj dεm de apin di tεm we di εmbrayo de, dat na we di pikin stil de na di mama in bεlε. Sɔntɛnde, dɛn chenj ya kin apin bay wilful, ɛn dɛn nɔ kin gɛt ɛni rizin. Bɔt bɔku tɛm, dɛn chenj ya kin kɔmɔt frɔm mama ɛn papa to pikin dɛn.

difrεn we dεm de we dεn kin pas dεn jεnεtik chenj ya to pikin dεm. Wi kin kɔl dɛn ɛritaj patɛns ya :

• כtosomal rεsεsiv inhεritεns: insay dis kes, dεn tu mama εn papa na dεn kכriכs fכ di jεnεtik vεryushכn (we min se dεn nכ gεt di simptom dεm, bכt dεn gεt di jin we nכ de wok fayn). Fɔ mek pikin gɛt dis sik, in mama ɛn papa ɔl tu fɔ gɛt ɔl tu di kɔpi dɛn fɔ di jin we nɔ fayn.
• כtosom dכminant inhεritεns: dis kכndyushכn kin apin ivin if di pikin inhεrit wan kכpi fכ di jin we nכ de wok fayn frכm wan mama εn papa (di mama כ di papa).
• X-linked inheritance: Insay dis kes, di jin we nɔ fayn de na di X kromozom. Dis kin afɛkt man dɛn mɔ.

Pan ɔl we dɛn tin ya na sɔm dip mɛdikal tin dɛm, a tink se dɛn impɔtant fɔ gɛt wan rɔf aydia bɔt aw dis kɔndishɔn kin pas frɔm jɛnɛreshɔn to jɛnɛreshɔn tru jin dɛm.

Us prɔblɛm dɛn dis kin mek?

Di tɛm we pikin de bɔn na impɔtant tin fɔ mek dɛn gɛt bɔdi ɛn maynd. Kallmann Syndrome kin mek pikin nɔ ebul fɔ rich da maylston de lɛk aw dɛn bin de tink. Dis min se di pikin in mami ɛn dadi biznɛs kin delay we yu kɔmpia am wit ɔda pikin dɛn we gɛt di sem ej, ɔ i kin ivin stɔp ɔltogɛda.

Imajin, we yɔŋ pikin de wit ɔda padi dɛn we in ej, aw i go tranga fɔ si se dɛn padi dɛn bɔdi de chenj (lɛk fɔ gro lɔng, chenj dɛn vɔys, fɔ gro biad, fɔ divɛlɔp bɔdi), bɔt dɛn yon nɔ de chenj? Dɛn kin shem ɛn fil se dɛn nɔ impɔtant fɔ di we aw dɛn luk. Dɛn kin fil lɛk se dɛn difrɛn ɛn dɛn nɔ de nia ɔda pipul dɛn. Bikɔs ɔf tin dɛn lɛk dis, di pikin kin gɛt prɔblɛm dɛn na in maynd lɛk fɔ fil bad ɔ fɔ wɔri bad bad wan . I kin tranga fɔ tɔk to ɔda pipul dɛn na skul ɛn na sosayti.

So, i rili impɔtant fɔ gi pikin we gɛt dis sik tritmɛnt wit in bɔdi, ɛn bak fɔ kia fɔ dɛn maynd wɛlbɔdi, ɛn fɔ gi advays if nid de . Di sɔpɔt we mama ɛn papa ɛn ticha dɛn de gi bak rili valyu na ya.

Aw dɔktɔ dɛn kin fɛn dis?

Bɔku tɛm, if yu gɛt ɛnitin fɔ wɔri bɔt aw yu pikin de gro, fɔ ɛgzampul, if dɛn nɔ bigin fɔ sho sayn dɛn fɔ se i dɔn rich 13-14 ia, yu go fɔs go to dɔktɔ we de mɛn pikin dɛn. Ɔda we de fɔ du dat, yu kin go bak to dɔktɔ we de mɛn di sik dɛn we de na di bɔdi.

Di fɔs tin we di dɔktɔ kin du na fɔ du gud gud wan fɔ chɛk di pikin in bɔdi . dat min se dεn de chεk di ayt, di wet, εn di sayn dεm we de sho se di bכdi de gro (lεk di brεst divεlכpmεnt εn di jεnital divεlכpmεnt). Dɔn dɛn kin aks di pikin ɛn yu (di mama ɛn papa) bɔt di chenj dɛn we pikin dɛn kin gɛt na dɛn bɔdi we dɛn ol bitwin 8 ɛn 15. Dɛn kin aks bak if ɛnibɔdi na di famili dɔn delay fɔ bɔn pikin ɔ we nɔ dɔn go tru di tɛm we dɛn de bɔn atɔl. Dɛn go aks bak if prɔblɛm de wit di sɛns fɔ smɛl.

Dɔn, if di dɔktɔ tink se i gɛt Kallmann Syndrome, i kin tɛl yu fɔ du sɔm tɛst dɛn, lɛk:

• Blɔd tɛst dɛn:Dis na wan pan di tɛst dɛn we impɔtant pas ɔl. Dɛn kin luk di lɛvɛl dɛn we difrɛn ɔmon dɛn de na di bɔdi. spεshal wan, di pituitary hכmon dεm we wi bin tכk bכt, we dεn kכl FSH εn LH, εn di sεks כmon dεm we dεn kכl tεstostεron (insay bכy pikin dεm) εn εstrojen (insay gyal pikin dεm). Dɛn ɔmon lɛvɛl ya kin smɔl pan di sik we dɛn kɔl Kallmann syndrome.
• Test fɔ chɛk aw pɔsin de smɛl: Dis na simpul tɛst. dεn kin gi di pikin difrεn smel dεm we i sabi (e.g. kכfi, sop, mint) εn dεn kin aks am fכ no dεn.
• Jεnεtik tεst: Dis involv fכ luk fכ spεshal jεnεtik vεryushכn dεm na wan blכd sεmpl we wi bin tכk bכt fכs we kכl Kallmann syndrome. Bɔt nɔto ɔltɛm dɛn kin du dɛn tɛst ya ɛn dɛn kin dia smɔl. Dɛn kin jɔs du dɛn if nid de, afta ɔda tɛst dɛn.
• Sɔntɛnde dɛn kin du MRI skan na di bren fɔ si if ɛni prɔblɛm de wit di haypothalamus ɛn di pituitary gland dɛn, ɔ if di olfactory bulb nɔ de divɛlɔp.

Ɛni tritmɛnt dɛn de?

Laki, fayn tritmɛnt dɛn de fɔ Kallmann Syndrome. Di men tritmɛnt na ɔmon riplesmɛnt tɛrapi (HRT) . Dis min se yu fɔ gi di bɔdi di ɔmon dɛn we i nɔ de mek bay insɛf ɔ we i de mek smɔl. Di op na dat dɛn tritmɛnt ya go ɛp fɔ bigin fɔ bɔn pikin, fɔ gɛt sɛkɔndari sɛkshɔnal kwaliti dɛn (lɛk di ia we de na di fes ɛn di bɔdi we de gro), ɛn mek di bon dɛn strɔng.

Bɔt di tritmɛnt ɛn di kayn ɔmon dɛn we dɛn kin gi kin difrɛn frɔm wan pɔsin to ɔda pɔsin, i kin difrɛn if di pikin na bɔy pikin ɔ gyal pikin, ɛn i kin difrɛn bay di ej we i ol.

Na sɔm pan di tritmɛnt dɛn we dɛn kin yuz mɔ:

• Fɔ bɔy pikin dɛn: Tɛstostɛron na di ɔmon we dɛn kin gi. Dɛn kin gi am as injɛkshɔn (lɛk wan tɛm insay di mɔnt), as pat pan di skin, ɔ as jel we dɛn kin put pan di skin ɛvride .
• Fɔ gyal pikin dɛn: Dɛn kin gi ɛstrojen fɔs. Leta, dɛn kin jɔyn am wit prɔjɛstɛron fɔ mek pɔsin gɛt mɔnt. Dɛn kin gi dɛn tin ya as pils ɔ as pat pan di skin.
• sכmtεm, spεshal fכ big pipul dεm we de plan fכ bכn pikin, dεn kin gi tritmεnt wit GnRH כmon pכmp כ injεkshכn כmon dεm we lεk FSH εn LH, lεk HCG (human chorionic gonadotropin) εn hMG (human menopausal gonadotropin), fכ mek di ovuleshכn (insay uman dεm) כ fכ mek di sεl dεm (insay man dεm).

Afta di dɔktɔ dɔn bigin dis tritmɛnt, i go de chɛk di pikin ɔltɛm, chɛk di ɔmon lɛvɛl, ɛn ajɔst di tritmɛnt doz as nid de.

Wetin yu kin ɛkspɛkt we yu de liv wit dis sik?

Pikin we gɛt dis sik kin nid fɔ tek ɔmon riplesmɛnt tɛrapi fɔ di res ɔf in layf ɔ fɔ lɔng tɛm . Na dat na di nɔmal tin we kin apin.

Bɔt di gud nyus na dat, man ɛn uman dɛn we gɛt Kallmann syndrome kin gɛt pikin dɛn bak if dɛn tek di rayt ɔmon tritmɛnt. Sɔm patikyula tritmɛnt dɛn de fɔ dis. Sɔm man dɛn kin kɔntinyu fɔ mek swɛlin afta dɛn dɔn stɔp di tritmɛnt. Dɔktɔ dɛn kɔl dis ‘rivɛrsibl Kallmann sindrom’ . Bɔt dis nɔ kin apin to ɔlman.

We yu de gro ɔp ɛn bigin fɔ yɔŋ, na tɛm we bɔku prɔblɛm dɛn kin mit yu na layf. If yu gɛt di sik we dɛn kɔl Kallmann Syndrome, dat kin mek da prɔblɛm de mɔ ɛn mɔ. Dis kin mek di pikin delay fɔ bɔn pikin, ɔ ivin i nɔ kin rich di yɔŋ pɔsin atɔl. So, if yu pikin gɛt dis sik, dɛn nɔ kin gɛt di chenj dɛn we dɛn kɔmpin dɛn kin chenj na in bɔdi. Dis kin mek dɛn wɔri bɔt aw dɛn luk, shem, ɛn tray fɔ fa frɔm ɔda pipul dɛn. Dɛn kin fil lɛk se dɛn de lɛf dɛn, ɔ dɛn kin fil se dɛn difrɛn.

Ivin if no deti ɔ tɛm nɔ de fɔ mek yu pikin bɔn, if yu gɛt ɛni kwɛstyɔn ɔ tin we de mɔna yu bɔt aw yu pikin de gro, mɔ di we aw i de du mami ɛn dadi biznɛs, di bɛst tin fɔ du na fɔ tɔk to dɔktɔ we de mɛn pikin dɛn ɔ pɔsin we sabi bɔt ɔmon . Dɛn kin ebul fɔ asɛs yu ɛn yu pikin fayn fayn wan ɛn gi yu di advays ɛn tritmɛnt we i nid.

Mɛsej we dɛn kin kɛr go na os

Okay, so frɔm wetin wi dɔn tɔk bɔt fɔ lɔng tɛm, a op se yu dɔn gɛt gud, klia aidia bɔt Kallmann Syndrome.

Fɔ tɔk smɔl, di sik we dɛn kɔl Kallmann syndrome na wan sik we nɔ kin apin so ɔltɛm we kin mek pɔsin nɔ ebul fɔ smɛl mɔ ɛn bɔku tɛm i kin mek i nɔ ebul fɔ smɛl igen.

• di men prכblεm na dis na di כmon prodakshכn chen we de stat na di bren.
• Dis sik kin afɛkt man ɛn uman , bɔt i kin apin mɔ pan bɔy pikin dɛn.
• Di sayn dɛm kin bi tin dɛm lɛk fɔ nɔr sho sayn dɛm fɔ puberty wae yu de rich di rayt ej, fɔ lɔs ɔr nɔr de smɛl, prɔblɛm wit yu tit, ɛn fɔ gɛt prɔblɛm wit yu yay.
• Ɔmon tɛrapi na di men tritmɛnt. Dis tritmɛnt kin nid fɔ de ɔlsay na yu layf.
• Bɔku tɛm di tritmɛnt kin mek pɔsin bɔn pikin ɛn i kin mek i ebul fɔ bɔn pikin bak .
• Saikɔlɔjik sɔpɔt ɛn advays bak rili impɔtant fɔ pikin ɛn big pipul dɛn we gɛt dis sik.
• If yu gɛt ɛni dawt bɔt aw yu pikin dɔn rich fɔ bɔn, nɔ de te ɛn go to dɔktɔ . Di kwik we dɛn no se i gɛt am, na di mɔ i kin izi fɔ bigin fɔ trit am ɛn fɔ mek i nɔ gɛt bɔku prɔblɛm dɛn we kin apin.

Wi rili op se dis infɔmeshɔn dɔn ɛp yu. Mɛmba se nɔto yu wangren de du dis waka. Dɔktɔ ɛn advaysa dɛn de na Sri Lanka we gɛt sɛns fɔ ɛp ɛn gayd di wan dɛn we gɛt di sem kayn tin.

Kallmann Syndrome, delay puberty, lכs fכ smεl, anosmia, כmon prכblεm, jεnεtik sik, hypogonadotropic hypogonadism