Ingxenye ye-androgen insensitivity syndrome

Ingxenye ye-androgen insensitivity syndrome (i-PAIS) yisifo esenzeka ezinganeni lapho umzimba wazo ungakwazi ukuphendula ngendlela eyiyo kuma-hormone abesilisa besilisa (androgens). I-testosterone iyi-hormone yobulili besilisa.

Lokhu kuphazamiseka uhlobo lwe-androgen insensitivity syndrome.

Ezinyangeni ezimbili kuya kwezingu-3 zokuqala zokukhulelwa, zonke izingane zinezitho zangasese ezifanayo. Njengoba ingane ikhula ngaphakathi esibelethweni, izitho zangasese zowesilisa noma zesifazane ziyakhula ngokuya ngama-chromosomes ocansi avela kubazali. Kuya futhi ngamazinga we-androgens. Enganeni enama-chromosomes e-XY, amazinga aphezulu ama-androgens enziwa emasendeni. Le ngane izokhula isitho sangasese sowesilisa. Enganeni enama-chromosomes ama-XX, awekho ama-testes futhi amazinga ama-androgens aphansi kakhulu. Le ngane izokhula izitho zangasese zabesifazane. Ku-PAIS, kukhona ushintsho kufuzo olusiza umzimba ukubona nokusebenzisa ama-hormone wesilisa kahle. Lokhu kuholela ezinkingeni ngokukhula kwezitho zobulili zowesilisa. Lapho izalwa, ingane ingaba nezitho zangasese eziyindida, okuholela ekudidekeni ngobulili bengane.

Lesi sifo sidluliselwa ngemindeni (ezuzwe njengefa). Abantu abanama-chromosomes amabili we-X abathinteki uma ngabe ikhophi eyodwa kuphela ye-X chromosome ithwala ukuguquka kwezakhi zofuzo. Abesilisa abazuza ifa kofuzo konina bazoba nalesi simo. Kukhona amathuba angama-50% okuthi ingane yesilisa kamama ene-gene ithinteke. Yonke ingane yesifazane inamathuba angama-50% okuthwala isakhi sofuzo. Umlando womndeni ubalulekile ekunqumeni izinto ezinobungozi ze-PAIS.

Abantu abane-PAIS bangaba nezici zomzimba zowesilisa nowesifazane. Lokhu kungafaka:

• Izitho zangasese zesilisa ezingajwayelekile, njenge-urethra engaphansi kwepipi, ipipi elincane, isikhumba esincane (esinomugqa owehla phakathi noma uvaliwe ngokuphelele), noma amasende angafunwanga.
• Ukukhula kwamabele kwabesilisa ngesikhathi sokuthomba. Ukwehla kwezinwele zomzimba nentshebe, kepha izinwele ezivamile zasesidlangalaleni nasemakhwapheni.
• Ukungasebenzi ngokocansi nokungazali.

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba.

Ukuhlolwa kungafaka:

• Ukuhlolwa kwegazi ukuhlola amazinga ama-hormone abesilisa nabesifazane
• Ukuhlolwa kofuzo njenge-karyotyping ukuhlola ama-chromosomes
• Isibalo sesidoda
• I-biopsy yamasende
• I-pelvic ultrasound ukubheka ukuthi izitho zokuzala zabesifazane zikhona yini

Izinsana ezine-PAIS zingabelwa ubulili ngokuya ngobungako bokungacaci kobulili. Noma kunjalo, ukwabiwa kobulili kuyinkinga eyinkimbinkimbi futhi kufanele ibhekwe ngokucophelela. Ukwelashwa okungenzeka kwe-PAIS kufaka:

• Kulabo ababelwe njengabesilisa, ukuhlinzwa kungenziwa ukunciphisa amabele, ukulungisa amasende angavumelekile, noma ukubumba kabusha ipipi. Bangathola futhi i-androgens ukusiza izinwele zobuso zikhule futhi zijulise izwi.
• Kulabo ababelwe njengabesifazane, kungenziwa ukuhlinzwa ukuze kususwe amasende kuphinde kubunjwe izitho zangasese kabusha. I-hormone yesifazane i-estrogen bese inikezwa ngesikhathi sokuthomba.

La maqembu alandelayo anganikeza imininingwane eminingi nge-PAIS:

• I-Intersex Society yaseNyakatho Melika - www.isna.org/faq/conditions/pais
• Isikhungo Sokwaziswa se-NIH Genetic and Rare Diseases - rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome

Ama-Androgens abaluleke kakhulu ngesikhathi sokukhula kokuqala esibelethweni. Abantu abane-PAIS bangaba nempilo ejwayelekile futhi babe nempilo ngokuphelele, kepha bangaba nobunzima bokukhulelwa ingane. Ezimweni ezinzima kakhulu, abafana abanesitho sangasese sowesifazane sangaphandle noma ipipi elincane ngokwedlulele bangaba nezinkinga ezingokwengqondo noma ezingokomzwelo.

Izingane ezine-PAIS nabazali bazo bangazuza ekwelulekeni nasekunakekelweni yithimba lezokunakekelwa kwezempilo elibandakanya ongoti abehlukene.

Shayela umhlinzeki wakho uma wena, indodana yakho, noma ilungu lomndeni wesilisa unokuzala noma ukukhula okungaphelele kwesitho sangasese sowesilisa. Ukuhlolwa nokwelulekwa ngofuzo kuyanconywa uma kusolwa i-PAIS.

Ukuhlolwa ngaphambi kokubeletha kuyatholakala. Abantu abanomlando womndeni we-PAIS kufanele bacabangele ukwelulekwa ngezakhi zofuzo.

I-PAIS; I-Androgen insensitivity syndrome - ingxenye; Ubufazi besende obungaphelele; Thayipha i-pseudohermaphroditism yamadoda engaphelele; I-Lubs syndrome; Reifenstein syndrome; I-Rosewater syndrome

• Uhlelo lokuzala lwabesilisa

I-Achermann JC, i-Hughes IA. Izinkinga zezingane zokukhula kocansi. Ku: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, abahleli. Incwadi kaWilliams ye-Endocrinology. Umhlaka 13. IPhiladelphia, PA: Elsevier; 2016: isahluko 23.

UShinorhavorian M, uFechner PY. Ukuphazamiseka kokwehluka ngokocansi. Ku: Gleason CA, Juul SE, ama-eds. Izifo zika-Avery’s zeNewborn. Umhlaka 10. IPhiladelphia, PA: Elsevier; 2018: isahluko 97.