I-Androgen insensitivity syndrome

I-Androgen insensitivity syndrome (AIS) kulapho umuntu ongowesilisa ngokwezakhi zofuzo (one-X eyodwa no-Y chromosome) emelana namahomoni wesilisa (abizwa nge-androgens). Ngenxa yalokhu, umuntu unezici ezithile zomzimba zowesifazane, kepha ukwakheka kofuzo kowesilisa.

I-AIS ibangelwa ukukhubazeka kwezakhi zofuzo ku-X chromosome. Lokhu kukhubazeka kwenza umzimba ungakwazi ukuphendula kumahomoni akhiqiza ukubonakala kowesilisa.

Lesi sifo sihlukaniswe izigaba ezimbili eziyinhloko:

• Qedela i-AIS
• Ingxenye ye-AIS

Ku-AIS ephelele, ipipi nezinye izitho zomzimba zesilisa zehluleka ukukhula. Lapho izalwa, ingane ibukeka njengentombazane. Ifomu eliphelele le-syndrome livela kokuzalwa okungu-1 kwabangu-20 000 abaphilayo.

Ku-AIS engakhethi, abantu banezinombolo ezahlukahlukene zezici zabesilisa.

Ingxenye ye-AIS ingafaka ezinye izinkinga, njenge:

• Ukwehluleka kwe-testes eyodwa noma womabili ukwehlela esikhwameni ngemuva kokuzalwa
• I-Hypospadias, isimo lapho ukuvulwa kwe-urethra kungaphansi ngaphansi kwepenisi, esikhundleni sethimu
• I-Reifenstein syndrome (eyaziwa nangokuthi i-Gilbert-Dreyfus syndrome noma i-Lubs syndrome)

I-infertile male syndrome nayo ibhekwa njengengxenye ye-AIS engakhethi.

Umuntu one-AIS ephelele ubonakala njengowesifazane kepha akanaso isibeletho. Banezinwele ezincane zekhwapha neze-pubic. Ngesikhathi sokuthomba, izici zobulili besifazane (ezifana namabele) ziyakhula. Kodwa-ke, umuntu akangeni esikhathini futhi avundiswe.

Abantu abane-AIS ngokwengxenye bangaba nezici zomzimba zowesilisa nowesifazane. Abaningi banokuvalwa okuncane kwesitho sangasese sangaphandle, i-clitoris ekhulisiwe, kanye nesitho sangasese esifushane.

Kungaba khona:

• Isitho sangasese kodwa awunaso umlomo wesibeletho noma isibeletho
• I-hernia yama-Inguinal enama-testes angazwakala ngesikhathi sokuhlolwa komzimba
• Amabele abesifazane ajwayelekile
• Ukuhlolwa esiswini noma kwezinye izindawo ezingajwayelekile emzimbeni

I-AIS ephelele ayitholakali ngesikhathi sobuntwana. Kwesinye isikhathi, ukukhula kuzwakala esiswini noma emgodini okuba yisende lapho kuhlolisiswa ngokuhlinzwa. Iningi labantu abanalesi sifo alitholakali kuze kube yilapho lingasayi esikhathini noma linenkinga yokukhulelwa.

Ingxenye ye-AIS ivame ukutholwa ngesikhathi sobuntwana ngoba umuntu angaba nezici zomzimba zowesilisa nowesifazane.

Ukuhlolwa okusetshenziselwa ukuxilonga lesi simo kungafaka:

• Igazi lisebenza ukuhlola amazinga e-testosterone, i-luteinizing hormone (LH), ne-follicle-stimulating hormone (FSH)
• Ukuhlolwa kofuzo (i-karyotype) ukunquma ukwakheka kofuzo lomuntu
• I-pelvic ultrasound

Okunye ukuhlolwa kwegazi kungenziwa ukusiza ukutshela umehluko phakathi kokushoda kwe-AIS ne-androgen.

Amasende asendaweni engafanele angahle akhishwe kuze kube yilapho ingane iqeda ukukhula futhi idlula ebusheni. Ngalesi sikhathi, ama-testes angasuswa ngoba angaba nomdlavuza, njenganoma yisiphi isende elingalindelwanga.

Ukufakwa esikhundleni se-estrogen kungabekwa ngemuva kokuthomba.

Ukwelashwa nokwabiwa kobulili kungaba yinkinga eyinkimbinkimbi kakhulu, futhi kumele kubhekiswe kumuntu ngamunye.

Umbono we-AIS ephelele muhle uma izicubu zesende zisuswa ngesikhathi esifanele ukuvimbela umdlavuza.

Izinkinga zifaka:

• Ukungabi nenzalo
• Izinkinga zengqondo nezenhlalo
• Umdlavuza wamasende

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma wena noma ingane yakho unezimpawu noma izimpawu zesifo.

Ubufazi besifazane

• I-anatomy yokuzala yowesilisa
• I-anatomy yokuzala yabesifazane
• I-anatomy yokuzala yabesifazane
• I-Karyotyping

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