Androgen ukungaziva komzimba

I-Androgen insensitivity syndrome (AIS) kuxa umntu oyindoda yemfuza (one-X kunye no-Y omnye we-chromosome) enganyangekiyo kwihomoni yamadoda (ebizwa ngokuba yi-androgens). Ngenxa yoko, umntu uneempawu ezithile zomfazi, kodwa ukwakheka kwemfuza kwendoda.

I-AIS ibangelwa ziziphene zemfuza kwi-X chromosome. Ezi ziphene zenza ukuba umzimba ungakwazi ukuphendula kwiihomoni ezivelisa ukubonakala kwendoda.

Isifo esi sahlulwahlulwe ngokwamacandelo amabini:

• Gcwalisa i-AIS
• Inxalenye ye-AIS

Kwi-AIS epheleleyo, i-penis kunye namanye amalungu omzimba oyindoda asilele ukukhula. Ekuzalweni, umntwana ubonakala ngathi uyintombazana. Ifom epheleleyo yesifo ivela kwinani eli-1 kwizi-20 000 zokuzalwa.

Kwinxalenye ye-AIS, abantu banamanani ahlukeneyo eempawu zobudoda.

Inxalenye ye-AIS inokubandakanya ezinye iingxaki, ezinje:

• Ukusilela kuvavanyo olunye okanye omabini ukuze wehle kwisikhwenene emva kokuzalwa
• I-Hypospadias, imeko apho ukuvulwa kwe-urethra kungaphantsi kwepenisi, endaweni yencam
• Isifo iReifenstein syndrome (esikwabizwa ngokuba sisiGilbert-Dreyfus syndrome okanye iLubs syndrome)

Ukungafakwanga kwesifo samadoda kuthathwa njengenxalenye ye-AIS.

Umntu one-AIS epheleleyo ubonakala njengowasetyhini kodwa akanasibeleko. Banee-armpit ezincinci kunye neenwele ze-pubic. Ngexesha lokufikisa, iimpawu zesini sabasetyhini (ezinje ngamabele) ziyakhula. Nangona kunjalo, umntu akayi exesheni aze achume.

Abantu abane-AIS ekhethekileyo banokuba neempawu zomzimba wamadoda nabasetyhini. Uninzi lunokuvalwa ngokuyinxenye kwilungu lobufazi elingaphandle, iklitorisi eyandisiweyo kunye nebhinqa elifutshane.

Kunokubakho:

• Ubufazi kodwa awukho umlomo wesibeleko okanye isibeleko
• Ingqiniba ye-Inguinal eneemvavanyo ezinokuviwa ngexesha lovavanyo lomzimba
• Amabele amabhinqa aqhelekileyo
• Uvavanyo esiswini okanye kwezinye iindawo ze-atypical emzimbeni

Ukugqiba i-AIS kunqabile ukuba kufumaneke ngexesha lobuntwana. Ngamanye amaxesha, ukukhula kuyaziva esiswini okanye ekuthini kuguquke kube yindawo yamatyhalarha xa kuhlolisiswa ngoqhaqho. Uninzi lwabantu abanale meko abafunyaniswa bade bangafumani xesha lokuya exesheni okanye babenengxaki yokukhulelwa.

Inxalenye ye-AIS ihlala ifunyanwa ngexesha lobuntwana kuba umntu unokuba neempawu zomzimba wamadoda nabasetyhini.

Uvavanyo olusetyenziselwa ukufumanisa le meko lunokubandakanya:

• Umsebenzi wegazi ukujonga amanqanaba e-testosterone, i-luteinizing hormone (LH), kunye ne-follicle-evuselela i-hormone (FSH)
• Uvavanyo lwe-Genetic (karyotype) ukumisela ukwakheka kwemfuza yomntu
• Iipelvic ultrasound

Olunye uvavanyo lwegazi lunokwenziwa ukunceda ukwahlula phakathi kwe-AIS kunye nokusilela kwe-androgen.

Amatyhalarha akwindawo engafanelekanga anokungasuswa de umntwana agqibe ukukhula aze afikelele kwinqanaba lokufikisa. Ngeli xesha, iimvavanyo zinokususwa kuba zinokuphuhlisa umhlaza, njengalo naliphi na ityhalarha elingafunekiyo.

Ukufakwa endaweni ye-Estrogen kunokumiselwa emva kokufikisa.

Unyango kunye nokwabiwa kwesini kunokuba ngumcimbi onzima kakhulu, kwaye kufuneka ujolise kumntu ngamnye.

Imbonakalo ye-AIS epheleleyo ilungile ukuba izicwili zamatyhalarha zisuswe ngexesha elifanelekileyo ukuthintela umhlaza.

Iingxaki zibandakanya:

• Ukungachumi
• Imiba yezengqondo nezentlalo
• Umhlaza wamatyhalarha

Fowunela umboneleli wakho wezempilo ukuba wena okanye umntwana wakho uneempawu okanye iimpawu zesifo.

Uvavanyo lobufazi

• I-anatomy yokuzala eyindoda
• I-anatomy yokuzala yabasetyhini
• I-anatomy yokuzala yabasetyhini
• Ukuchwetheza

UChan YM, uHannema SE, uAchermann JC, uHughes IA. Ukuphazamiseka ekukhuleni kwesondo. Ku: UMelmed S, uAuchus RJ, uGoldfine AB, uKoenig RJ, uRosen CJ, ii-eds. Incwadi ebhaliweyo kaWilliam ye-Endocrinology. Umhla we-14. IPhiladelphia, PA: Elsevier; 2020: isahl 24.

IDonohoue PA. Ukuphazamiseka ekukhuleni kwesondo. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 606.

Yu RN, iDayimani yeDA. Ukuphazamiseka kuphuhliso lwezesondo: i-etiology, uvavanyo kunye nolawulo lwezonyango. Ku: UPartin AW, uDmochowski RR, uKavoussi LR, uPeter CA, ii-eds. ICampbell-Walsh-Wein Urology. Umhla we-12. IPhiladelphia, PA: Elsevier; 2021: isahluko 48.