Yu pikin de sɔfa wit sɔntin lɛk dis? Lɛ wi lan bɔt Congenital Adrenal Hyperplasia (CAH)!

Sɔntɛnde we yu luk pikin we dɛn jɔs bɔn, ɔ pikin we dɔn big smɔl, yu go dɔn notis sɔm chenj dɛn. Sɔntɛm dɔktɔ dɔn tɛl yu se yu pikin gɛt wan sik we dɛn kɔl `(Congenital Adrenal Hyperplasia)` ɔ `(CAH)`. Nɔ fred we yu yɛri dis nem. Pan ɔl we i kɔmplikt smɔl, lɛ wi tɔk bɔt am insay simpul Sinhala we pɔsin kin ɔndastand. Jɔs lɛk aw yu go tɔk to yu padi.

Wetin na di sik we dɛn kɔl congenital adrenal hyperplasia (CAH)?

Fɔ tɔk am simpul wan, CAH na wan sik we wi bɔn wit, ɔ we wi kin gɛt we kin afɛkt di adrenal gland dɛn na wi bɔdi mɔ. Yu mɛmba se tu smɔl smɔl gland dɛn de ɔp wi kidni dɛn? Na dat wi kin kɔl di adrenal gland dɛn . Pan ɔl we dɛn smɔl, dɛn kin mek bɔku impɔtant ɔmon dɛn we rili impɔtant fɔ mek wi bɔdi wok fayn fayn wan.

Lɛ wi si wetin na dɛn ɔmon ya:

• Kɔtisol: Dis ɔmon de ɛp wi bɔdi fɔ bia wit strɛs, sik, ɛn injuri. I impɔtant bak fɔ rigul tin dɛn lɛk blɔd prɛshɔn, ɛnaji lɛvɛl, ɛn blɔd shuga lɛvɛl.
• Aldosterone: Dis ɔmon de ɛp fɔ mek wi gɛt di rayt sɔl (sɔdiɔm) ɛn wata na wi bɔdi. I nid bak fɔ kɔntrol blɔd prɛshɔn ɛn blɔd volyum.
• Androjen dεm: Dis na di man sεks כmon dεm (fכ egzampl, tεstostεron). Dɛn ɔmon ya impɔtant fɔ mek pɔsin ebul fɔ mared, fɔ mek i gro fayn, ɛn fɔ mek i gro fayn.

naw, wetin kin apin to pכsin we gεt `(CAH)` na dat wan כ mכr pan dεn εnzym dεm ya we de εp di adrenal gland dεm fכ mek dεn imכtant כmon dεm de rεdכks כ mis. if dis εnzym nכ de, di adrenal gland dεm nכ go ebul fכ wok fayn fayn wan. Dɔn:

• Sɔntɛm yu nɔ de mek inof kɔtisol .
• i posibul se dεn nכ de prodyuz inof aldosterone .
• Sɔntɛm dɛn kin mek tumɔs andrɔjen .

dis hכmon imbalans na wetin de mεntal apin insay di kכndishכn `(CAH)`.

Wetin na di men kayn `(CAH)`?

Tu men kayn CAH de. Dɛn tu kayn ya kin mek 95% pan di kes dɛm.

1. Klasik CAH: Dis na di kayn we we pasmak ɛn siriɔs wan we gɛt CAH. I kin mek yu gɛt siriɔs prɔblɛm dɛn we gɛt fɔ du wit di adrenal gland dɛm, lɛk fɔ shɔk ɛn ivin fɔ kɔma. E kin mek yu layf de pan denja if yu nɔr no am ɛn trit am kwik. Dɛn kin no dis klashik CAH kɔndishɔn we dɛn bɔn am.

Dis gɛt tu sɔbtayp dɛn bak:

• Salt-wasting CAH: Dis na wetin de insay (CAH) .Di kayn we we kin rili bad . insay dis kes, di adrenal gland dεm de prodyuz aldosterone, we rili lכw. we di aldosterone dכn lכs, di bכdi nכ kin kכntrol di lεvεl כf sכl (sכdiכm) na di bכdi. dis kin mek di sodium we pasmak kכmכt na di urine. apat frכm dat, kכtisol dεm dεn de prodyuz bכku bכt di andrכjen dεm de prodyuz mכr.
• Simpul-virilizing CAH: Dis na wan we we nɔ gɛt bɛtɛ CAH . insay dis kes, di aldosterone dεfisiεns nכ de sכmtεm sכmtεm. So, no sayn nɔr de wae kin mek pɔrsin in layf de pan denja. כltu, sכm kכtisol prodakshכn de εn mכr androgen prodakshכn de. dis εksyכs andrכjen we dεn de prodyuz kin mek yu gεt simptom dεm we gεt fכ divεlכpmεnt fכ sεks.

2. Nonclasic CAH: Dis na di mildest fכm f כ CAH. Bɔku tɛm, i kin apin we i smɔl, we i dɔn yɔŋ, ɔ we i dɔn big. Di sayn dɛm kin de ɔ nɔr kin de. dis kin bi bak bay we dεn de prodyuz di androgen we pasmak, we kin mek yu gεt simptom dεm we de rilet to sεks divεlכpmεnt.

Apat frɔm dɛn men kayn ya, sɔm ɔda kayn CAH de we nɔ kin bɔku, ɛn ɛni wan pan dɛn gɛt difrɛn sayn dɛn.

Udat kin gɛt CAH? Aw i kɔmɔn?

Dis kכndyushכn we dεn kכl ``(CAH)`` kin divεlכp pan εnibodi. Dat min se i kin afɛkt bebi, pikin, big pipul, ɛnibɔdi.

Na kɔntri dɛm lɛk Amɛrika ɛn Yurop, klas CAH kin afɛkt lɛk wan pan tɛn tawzin to fayvtin tawzin pipul dɛm. Nɔn klassik CAH nɔ kin bɔku smɔl, i kin afɛkt lɛk wan pan ɔl wan ɔndrɛd to tu ɔndrɛd pipul dɛn. Dɛn tu kayn ya de ɔlsay na di wɔl.

Wetin na di sayn dɛm fɔ `(CAH)`?

Di sayn dɛm fɔ CAH kin difrɛn difrɛn wan bay di kayn ɛn man ɔ uman. Fɔ ɛgzampul, sɔm pikin dɛn kin bɔn wit sɔm sayn dɛn, ɛn ɔda wan dɛn kin gɛt di sik as dɛn de ol.

Simptom dɛm fɔ Klasik CAH

insay klashik CAH, di androgen lεvεl dεm de rili hכy. Dis kin mek yu gɛt sɔm kayn sik dɛn we gɛt fɔ du wit di ɔmon dɛn we de mek pɔsin du mami ɛn dadi biznɛs. Ɔl tu di CAH we de west sɔl ɛn we de mek pɔsin simpul, kin mek pɔsin gɛt sɔm sayn dɛn lɛk:

• ambiguous genitalia in female bebies: Dis min se di pikin in external genitalia kin tan lεk man pikin in yon. כltu, di insay uman jεnitalia (lεk ovaria εn uterus) nכmal.
• di penis we big na man pikin dεm.
• Sayn dɛn we de sho se pɔsin dɔn bɔn kwik kwik wan: Fɔ ɛgzampul, in vɔys kin chenj, i kin gɛt siriɔs akni, ɛn i kin gro kwik kwik wan na in an, in prayvet pat, ɛn in fes.
• di kכmכt we man kכntribyushכn dεm de kכmכt pan gyal pikin dεm: di mכsul dεm de divεlכp, di vכys de dip, εn di fכs ia we dεn nכ want de gro.
• I de gro kwik kwik wan (insay di fɔs stej dɛm).
• Menstrual saykl we nɔ de ɔltɛm.
• Benign testikul tכmכro dεm.
• Di we aw pɔsin nɔ ebul fɔ bɔn pikin.

Apat frɔm dat, mɔ pan pipul dɛn we gɛt CAH we de west sɔl , we di ɔmon nɔ balans kin mek dɛn gɛt siriɔs adrenal simptom. Dɛn tin ya rili denja ɛn dɛn nid fɔ gɛt tritmɛnt kwik kwik wan :

• Di wata we nɔ de na di bɔdi.
• di sodium lεvεl dεm na di bכdi de dכn (Hyponatremia).
• Lɔw blɔd prɛshɔn (Hypotension).
• Di at we nɔ de bit ɔltɛm (Aritmia).
• Di blɔd shuga lɛvɛl smɔl (Hypoglycemia).
• di asid we de insay di bכdi de inkrεs (Mεtabolik asidכsis).
• Fɔ vɔmit.
• Rɔnbɛlɛ.
• We yu de lɔs yu wet.
• Shok stet `(Shok)`.

Impɔtant: Dɛn sayn ya fɔ CAH we de west sɔl, mɔ pan pikin we dɛn jɔs bɔn, na imejensi. Yu fɔ go to dɔktɔ wantɛm wantɛm.

Simptom dɛm fɔ Nɔnklasik CAH

Nɔn klassik CAH na wan kɔndishɔn we nɔ at. Sɔntɛm yu nɔ go ivin no se yu gɛt am. Bɔrku tɛm, de sayn dɛm nɔr kin so, bɔt dɛn kin bi:

• I de gro kwik kwik wan (insay di fɔs stej dɛm).
• Akni we gɛt akni.
• Di tɛm we pɔsin de bɔn pikin kwik kwik wan.
• Di ia we nɔ want fɔ gro na uman dɛn fes ɔ bɔdi.
• Menstrual saykl we nɔ de ɔltɛm.
• Di we aw pɔsin nɔ ebul fɔ bɔn pikin.
• Man patɛn boldnɛs (ali).
• Man dεm gεt big penis bכt sכm tεstikul dεm.

Wetin kin mek `(CAH)`?

כl di mכst kεys dεm, di mεn k כz fכ CAH na we di εnzym 21-haydroksylεz nכ de כ nכ de. di jεnεtik mכtεshכn dεm de afekt di lεvεl dεm fכ dis εnzym. na sכm tεm, we di εnzym 11-haydroksilayz dεn dכn kin mek CAH bak.

CAH na wan ɔtosomal rɛsɛsiv disɔda . Yu no wetin dat min? Wi kin gɛt tu kɔpi fɔ ɛni jin - wan frɔm wi mama ɛn wan frɔm wi papa. CAH de apin nכmכ we pikin gεt kכpi fכ di jin we de mek dis εnzym dεfichεshכn frכm in mama εn papa tu. If pɔsin gɛt wan mutated jin nɔmɔ, dɛn kin bi pɔsin we gɛt di sik bɔt dɛn nɔ kin sho di sayn dɛn.

Aw dɔktɔ dɛn kin no (diagnose) di kɔndishɔn `(CAH)`?

Klasik CAH

Bifo yu pikin go na os frɔm ɔspitul, di dɔktɔ dɛn go chɛk di pikin fɔ ``(CAH)''. Dis na nɔmal tin.pat pan di nyu bכbi skrinin tεst, dεn kin du dis bay we dεn tek sכm sכm blכd frכm di pikin in il. Dis kin tel if yu get klashik CAH.

If yu gɛt bɛlɛ ɛn yu dɔn gɛt pikin we gɛt CAH, yu kin du prɛnatal jenɛtik tɛst we yu gɛt bɛlɛ . yu dכkta kin du amniocentesis (tεst fכ di wata we de insay yu bεlε) כ chorionic villus sampling (tεst fכ wan pat pan di plasεnta) fכ si if yu gεt CAH.

CAH we nɔto klas

Nɔn klassik CAH kin bi afta yu ɔ yu pikin bigin fɔ sho di sik. Sɔntɛnde, i kin apin bak we pɔsin big. Yu dɔktɔ go du dɛn tin ya fɔ no di sik:

• Wan ɛgzamin we dɛn kin du fɔ chɛk pɔsin in bɔdi.
• Blɔd tɛst dɛn.
• Test fɔ yurin.
• Test fɔ di jenɛtiks.

Aw dɛn kin trit CAH?

Di tritmɛnt fɔ CAH de dipen pan di kayn ɛn aw di sik dɛn kin siriɔs. No mɛrɛsin nɔ de fɔ CAH. Bɔt, mɛrɛsin ɛn ɔda tritmɛnt dɛn kin ɛp fɔ kɔntrol di sik dɛn ɛn liv wɛl layf.

Klasik CAH tritmɛnt

Yu dɔktɔ go de wach yu kɔndishɔn ɔltɛm. Dɛn go du blɔd tɛst ɔltɛm fɔ chɛk yu ɔmon lɛvɛl. Di men gol fɔ tritmɛnt na fɔ mek shɔ se i gro nɔmal ɛn divɛlɔp pan mami ɛn dadi biznɛs.

Yu dɔktɔ kin gi yu mɛrɛsin lɛk dis fɔ trit yu sik dɛn:

• Sɔl sɔpɔtmɛnt: Nyu bɔn pikin dɛn kin nid sɔdiɔm klorayd sɔpɔtmɛnt (espɛshali fɔmula dɛn we de west sɔl).
• Glucocorticoids: Dɛn wan ya de wok bay we dɛn de tek di ples fɔ di ɔmon we dɛn kɔl kɔtisol, we di bɔdi nɔ de mek. Yu kin nid fɔ inkrisayz di doz fɔ dis mɛrɛsin we yu sik, sɔri, ɔr strɛs.
• Mineralocorticoids: Dɛn kin yuz dɛn tin ya fɔ tek di ples fɔ di ɔmon we dɛn kɔl aldosterone, we di bɔdi nɔ de mek.

If yu gɛt Klasik CAH, yu fɔ tek dɛn mɛrɛsin ya ɛvride fɔ di res ɔf yu layf. If yu stɔp fɔ tek di mɛrɛsin, yu sik go kam bak.

Wan ɔda tritmɛnt we dɛn kin du na fɔ ɔpreshɔn fɔ uman bebi dɛn we gɛt ambiguous genitalia. dis כpεrayshכn kin bi bitwin tu εn siks mכnt afta dεn bכn am fכ mek di εksternal jεnitalia dεm fכ luk εn wok bak. Sɔntɛnde, dɛn kin delay fɔ di ɔpreshɔn fɔ sɔm ia. Yu fɔ tek tɛm tɔk bɔt dis wit yu dɔktɔ bifo yu disayd fɔ du sɔntin.

Nɔn klassik CAH tritmɛnt

If yu nɔr gɛt ɛni sayn, yu nɔr nid tritmɛnt. If yu gɛt smɔl smɔl sik dɛn, dɛn kin gi yu smɔl smɔl glukokɔtikoyd. Bɔrku tɛm, dɛn pipul ya nɔr nid tritmɛnt fɔ ɔl dɛn layf.

If yu ɔ yu pikin gɛt CAH, i impɔtant fɔ go to mental wɛlbɔdi kia. dis na biכs di plεnti tin dεm εn prכblεm dεm we kin kam wit di kכndyushכn (lεk fכ chenj in bכdi, infεtiliti, εn כda tin dεm) kin gεt saykilojik impak. So, mɛntɛl hεlth sɔpɔt na impɔtant pat pan CAH tritmɛnt. I kin mek di kwaliti fɔ layf bɛtɛ.

Wetin na di prɔblɛm dɛn we kin kam wit CAH?

Insay klas CAH, mɔ di kayn we we de west sɔl, di wata we pasmak ɛn sɔl kin lɔs na di urine. dis kin mek siriכs komplikashכn dεm lεk εlektrolayt (e.g. potashכm) imbalans . If dɛn nɔ trit dɛn, dɛn tin ya we nɔ balans kin mek:

• Di at we nɔ de bit ɔltɛm (Aritmia).
• Di at we de mek di at nɔ de wok.
• Ivin day kin apin.

CAH we nɔto klas we dɛn nɔ trit kin mek kɔmplikeshɔn bak. Fɔ man dɛn:

• Di fɔs tɛm we i de bɔn.
• Shortness of stature (di ayt we de go dɔŋ).

Fɔ uman dɛn:

• Di tin dɛn we de apin to man in bɔdi we go de sote go.
• Menstrueshɔn we nɔ de ɔltɛm.
• Di we aw pɔsin nɔ ebul fɔ bɔn pikin.

Risk de bak fɔ sɔm prɔblɛm dɛn (lɛk infɛkshɔn, blɔd, ɛn skata) we dɛn du ɔpreshɔn pan di bɔdi we nɔ klia.

Yu tink se dɛn kin stɔp `(CAH)`?

Bikɔs CAH na jɛnɛtik kɔndishɔn, dɛn nɔ go ebul fɔ stɔp am. If sɔmbɔdi na yu famili gɛt CAH, ɔ if yu dɔn gɛt pikin we gɛt CAH, tink bɔt fɔ advays yu jɛnɛtiks ɛn/ɔ fɔ tɛst yu jɛnɛtiks . Dis go ɛp yu fɔ ɔndastand di risk we yu pikin dɛn kin gɛt fɔ gɛt dis sik.

Aw di situeshɔn de afta tritmɛnt fɔ `(CAH)`?

If dɛn no di sik kwik kwik wan ɛn trit dɛn fayn, pipul dɛn we gɛt CAH kin liv wɛl, prodaktiv layf. Pipul wae gɛt Klasik CAH go nid fɔ tek mɛrɛsin ɛvride fɔ di res ɔf dɛn layf. Di sik kin kam bak if dɛn stɔp fɔ tek di mɛrɛsin.

Bɔrku pipul dɛm wae gɛt CAH gɛt gud wɛl bɔdi, bɔt dɛn kin shɔt pas ɔda big pipul dɛm. sכm tεm dεm, CAH kin afekt fεtiliti. If dɛn bɔn yu wit ambiguous genitalia, yu kin nid saykilɔjik sɔpɔt. If yu gɛt ɛni prɔblɛm afta yu dɔn gɛt tritmɛnt, nɔr frayd fɔ tɔk to yu dɔktɔ.

Aw fɔ lɔs yu wet wit `(CAH)`?

Sɔm mɛrɛsin dɛn we dɛn kin yuz fɔ trit CAH (especially glucocorticoids) kin mek yu gɛt mɔ wet. Tɔk to yu dɔktɔ bɔt yu wet. I kin no if di wet we i gɛt na bikɔs ɔf di mɛrɛsin ɔ ɔda mɛrɛsin. Sɔntɛm yu go nid fɔ chenj di we aw yu de tek di mɛrɛsin. I kin ɛp yu bak fɔ mek plan fɔ it ɛn ɛksesaiz fɔ ɛp yu fɔ gɛt wɛlbɔdi wet.

`(CAH)` na disabiliti?

Sɔm ɔganayzeshɔn dɛn kin tek adrenal gland sik dɛn as disabled. If CAH kwalifay as disabiliti, na di kɔmplikɛshɔn dɛn we kin kɔmɔt frɔm da patikyula sik de kin sho.

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Na nɔmal tin fɔ mek yu fil bad we yu kam fɔ no se yu pikin gɛt wan sik we dɛn kɔl jenɛtik. Bɔt pikin dɛn we dɛn bɔn wit Congenital Adrenal Hyperplasia (CAH) kin gɛt bɛtɛ fiuja if dɛn no di sik kwik kwik wan ɛn trit dɛn fayn.

Mɛmba dɛn tin ya:

• (CAH) na wan jεnεtik kכndyushכn we de afekt di prodakshכn fכ כmon dεm na di adrenal gland dεm.
• Klasik CAH na di kayn we we rili bad ɛn dɛn kin no am tru nyu bɔbɔ we dɛn de chɛk.
• Fɔ no di sik kwik kwik wan ɛn fɔ tek mɛrɛsin fɔ ɔl yu layf (fɔ klas CAH) rili impɔtant.
• Tritmɛnt kin kɔntrol di sayn dɛm ɛn alaw fɔ gro ɛn divɛlɔp nɔmal wan.
• Sɔm pipul dɛn kin nid fɔ gɛt sɔpɔt ɛn advays bɔt dɛn maynd wɛlbɔdi biznɛs.
• If yu de plan fɔ gɛt bɛlɛ ɛn yu gɛt famili histri bɔt CAH, tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jenɛtiks.

Nɔ wɔri, nɔto yu wan de. If yu gɛt ɛni ɔda kwɛstyɔn bɔt `(CAH)`, aks yu dɔktɔ. Dɛn kin ɛp yu.

` Congenital Adrenal Hyperplasia, CAH, Adrenal glands, Cortisol, Aldosterone, Androgen, Hכmon imbalans, Jεnεtik dizכrd, Nyu bכn skrinin, כmon, Jεnεtik sik dεm, Adrenal gland dεm