Inxalenye ye-androgen insensitivity syndrome

Inxalenye ye-androgen insensitivity syndrome (i-PAIS) sisifo esenzeka ebantwaneni xa umzimba wabo ungaphenduli ngendlela eyiyo kwiihomoni zesini samadoda (androgens). I-testosterone yincindi yesini eyindoda.

Esi sigulo luhlobo lwe-androgen insensitivity syndrome.

Kwiinyanga ezi-2 ukuya kwezi-3 zokuqala zokukhulelwa, bonke abantwana banezitho zangasese ezifanayo. Njengokuba umntwana ekhula ngaphakathi esibelekweni, amalungu esini obudoda okanye obhinqileyo akhula ngokuxhomekeke kwisibini seekromosomes zesini ezivela kubazali. Kuxhomekeke kumanqanaba e-androgens. Kusana olunama-chromosomes e-XY, amanqanaba aphezulu e-androgens ayenziwa kwiimvavanyo. Olu sana luza kukhula amalungu esini obudoda. Kusana olunama-chromosomes angama-XX, akukho mvavanyo kwaye amanqanaba e-androgens asezantsi kakhulu. Olu sana luza kuba namalungu angasese ababhinqileyo. Kwi-PAIS, kukho utshintsho kuhlobo olunceda umzimba ukuba uqaphele kwaye usebenzise iihomoni zesilisa ngokufanelekileyo. Oku kukhokelela kwiingxaki ngokukhula kwamalungu esini esini. Ekuzalweni, umntwana unokuba nelungu lesini elingaqondakaliyo, elikhokelela ekudidekeni ngesini somntwana.

Isifo sidluliselwa kwiintsapho (ezizuzwe njengelifa). Abantu abanee-chromosomes ezimbini ze-X abachaphazeleka ukuba ikopi enye kuphela ye-X chromosome ithwala utshintsho lwemfuza. Amadoda azuze ilifa koomama aya kuba nale meko. Kukho ithuba elingama-50% lokuba umntwana oyinkwenkwe womama onesifo sofuzo achaphazeleke. Wonke umntwana obhinqileyo unethuba lama-50% lokuthwala imfuza. Imbali yosapho ibalulekile ekumiseleni umngcipheko wePAIS.

Abantu abanePAIS banokuba neempawu zomzimba wamadoda nabasetyhini. Oku kunokubandakanya:

• Izitho zangasese zesilisa ezingaqhelekanga, ezinjenge-urethra esezantsi kwepenisi, ipenisi encinci, iscrotum encinci (enomgca ezantsi embindini okanye evaliweyo ngokungagqitywanga), okanye amasende angafunekiyo.
• Ukukhula kwebele emadodeni ngexesha lokufikisa. Ukuncipha kweenwele zomzimba kunye neendevu, kodwa indawo yokushicilela eqhelekileyo kunye nekhwapha.
• Ukungasebenzi kakuhle ngokwesondo kunye nokungachumi.

Umboneleli wezempilo uya kwenza uvavanyo lomzimba.

Uvavanyo lunokubandakanya:

• Uvavanyo lwegazi ukujonga amanqanaba ehomoni yamadoda nabasetyhini
• Uvavanyo lwe-Genetic njenge-karyotyping ukujonga ii-chromosomes
• Ubalo lwesidoda
• Uvavanyo lwe-biopsy
• I-pelvic ultrasound ukujonga ukuba ngaba amalungu okuzala ababhinqileyo akhoyo

Iintsana ezine-PAIS zinokunikwa isini ngokuxhomekeke kubungakanani bokungacacanga kwezesini. Nangona kunjalo, ukwabiwa ngokwesini ngumcimbi onzima kwaye kufuneka uqwalaselwe ngononophelo. Unyango olunokubakho lwe-PAIS lubandakanya:

• Kulabo babelwe njengamadoda, utyando lunokwenziwa ukunciphisa amabele, ukulungisa amasende angalindelwanga, okanye ukuyila kwakhona ilungu lobudoda. Banokufumana i-androgens yokunceda iinwele zobuso zikhule kwaye zenze nzulu ilizwi.
• Kwabo babelwe njengabasetyhini, kungenziwa utyando lokususa amasende kunye nokubumba kwakhona amalungu esini. IHormone yesetyhini yabasetyhini inikwa ngexesha lokufikisa.

La maqela alandelayo anokubonelela ngolwazi oluthe kratya kwi-PAIS:

• Umbutho we-Intersex waseMntla Melika- www.isna.org/faq/conditions/pais
• IZiko loLwazi lweZifo zeMvelo zeNiH kunye neRare-rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome

I-Androgens ibaluleke kakhulu ngexesha lokukhula kwangoko esibelekweni. Abantu abane-PAIS banokuba nobomi obuqhelekileyo kwaye babe sempilweni ngokupheleleyo, kodwa banokuba nobunzima bokumitha umntwana. Kwiimeko ezinzima kakhulu, amakhwenkwe anamalungu angaphandle ababhinqileyo okanye ipenisi encinci kakhulu anokuba neengxaki zengqondo okanye zengqondo.

Abantwana abane-PAIS nabazali babo banokuzuza kwingcebiso nasekufumaneni ukhathalelo lweqela lezempilo elibandakanya iingcali ezahlukeneyo.

Fowunela umnikezeli wakho ukuba wena, unyana wakho, okanye ilungu losapho eliyindoda linokungachumi okanye ukukhula okungaphelelanga kwamalungu esini endoda. Ukuvavanywa kwemvelo kunye nokucebisa kuyacetyiswa ukuba i-PAIS iyarhanelwa.

Uvavanyo lokukhulelwa luyafumaneka. Abantu abanembali yosapho ye-PAIS kufuneka baqwalasele iingcebiso ngemfuzo.

IPAIS; Androgen insensitivity syndrome - ngokuyinxenye; Amatyhalarha angaphelelanga; Chwetheza I-pseudohermaphroditism yamadoda engaphelelanga; Isifo seLubs; Isifo seReifenstein; Isifo seRosewater

• Inkqubo yokuzala eyindoda

UAchermann JC, uHughes IA. Ukuphazamiseka kwabantwana ekukhuleni ngokwesondo. Ku: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, ii-eds. Incwadi ebhaliweyo kaWilliam ye-Endocrinology. Umhla we-13. IPhiladelphia, PA: Elsevier; I-2016: isahluko 23.

ISnorhavorian M, iFechner PY. Ukuphazamiseka kokwahluka ngokwesondo. Ku: Gleason CA, Juul SE, ii-eds. Izifo zika-Avery zoSana olusandul 'ukuzalwa. Ngomhla we-10. IPhiladelphia, PA: Elsevier; Ngo-2018: isahluko 97.