I-Testicular femineisation syndrome: unyango kunye nokukhusela

I-syndrome ye-femaletic testicular isifo esingaqhathananga nentsholongwane yokuzalwa, ehambelana nokunciphisa ukuvelela kwi-hormone yesini. Kwiimeko ezinzima kakhulu, umzimba uyaba nefuthe ngokupheleleyo kwimiphumo ye-androgens. Iimpawu zesifo esinjalo zinokuthi zibe neqondo elithile lobunzima, kwaye unyango lwezigulane lukhethwe ngabanye.

Ewe, abantu abahlangabezana nesifo esinjalo banomdla ngolwazi olongezelelweyo. Yiyiphi intsingiselo yezilwanyana zesifo? Indlela yokunyangwa kwesi sifo kwaye zikhona iindlela zokwelapha ezichanekileyo? Kutheni le nto ikhula? Ziziphi iziphumo zesigulane? Abantu abaninzi bafuna iimpendulo kule mibuzo.

I-syndrome ye-testicular feminisation-yintoni na?

Ukuqala oko kuyimfuneko ukuqonda intsingiselo yekota. I-syndrome ye-femaletic testicular isifo sesifo sokuzalwa esibangelwa ukutshintshwa kwe-chromosome yesini. Esi sifo sihamba kunye nokulahlekelwa kobubele kwi-androgens, kwaye isantya sokunciphisa ukuxhamla kwi-hormone yesini ingaba yinto eyahlukileyo-le nto ibonisa ubunzima beempawu.

Ngokomzekelo, ukuxhatshazwa ngokuthe ngqo kwi-androgens, le nkwenkwe ikhula ngokuqhelekileyo. Nangona kunjalo, xa usukhulile, mhlawumbi umntu angenasiphene, ekubeni i-spermatozoa ayivelwanga ngumzimba wakhe.

Ukubukeka ngokugqithisileyo kufana nokulahlekelwa ngokupheleleyo kweentlobo zamarmone ngokubhekiselele kwisifo esifana nesifo se-femtic syndrome. I karyotype yomntu ihlala isilisa. Nangona kunjalo, amakhwenkwe azalwa kunye nento ebizwa ngokuba yi-hermaphroditism yamanga, apho ukubunjwa kwamalungu omzimba wangaphandle ngohlobo lwamabhinqa kunye nokuba khona kwamathambo kunye nendawo eqhelekileyo ye testosterone egazini. Ngethuba lokuphelelwa komntwana, aba bafana bavame ukuhlakulela impawu zesini zesini (ngokomzekelo, izilonda zentlungu zandisiwe).

I-syndrome ye-testicular feminisation yintlupheko engaqhelekanga. Amawaka angama-50 ukuya kumawaka amawaka angamawaka angamawaka angamawaka anomntwana omnye onomnye ofanayo. Ukuba sicinga amatyala e-hermaphroditism, ngoko malunga ne-15-20% yezigulane ngenxa yobungqina be-genitalia ye-atypical inxulumene ne-STF. Ngendlela, kwiyeza, ukukhubazeka kubonakala phantsi kwamagama ahlukeneyo-i-syndrome yokungahloniphi i-androgens, i-Morris syndrome, i-pseudohermaphroditism yamadoda.

I-STF kwabasetyhini: ngaba oku kunokwenzeka?

Abantu abaninzi banomdla kumbuzo wokuba isifo se-femtic syndrome sisenzeka kubafazi. Ekubeni i-pathology inxulumene nokuguqulwa kwe-chromosome ye-Y, kunokutsho ngokuchanekileyo ukuba kuphela abantu abesilisa abachaphazelekayo.

Ngakolunye uhlangothi, abantu abahluphekayo kwisifo esinjalo bahlala befana nabafazi. Ngaphezu koko, bayaziqonda ngokufanelekileyo. Ngokwezibalo, izigulane ezine-hermaphroditism zamanga zibukeka zifana namantombazana athandayo, aphakamileyo anesifo esifutshane. Abantu abanokuxilongwa okufanayo banokubongwa ngeziganeko ezikhethekileyo, kubandakanywa nengqiqo nengqiqo, ukukwazi ukukhawuleza kwiimeko, amandla, ubuchule kunye nezinye iimpawu "zamadoda".

Enye into ebangel 'umdla kukuba abaninzi abafazi ababandakanyekayo kwimidlalo banekaryotype yindoda. Yingakho ama-sportswomen aqeqeshekileyo athatha umlenze wokuhlalutya kwe-DNA - abafazi (oko kukuthi, amadoda) kunye ne-Morris syndrome abavunyelwe ukuba bancintisane.

Ngendlela, ubukho bentsholongwane enjalo bubangelwa ngabantu abaninzi bembali, kuquka uJoan wase-D'Arc kunye no-Queen owaziwayo wase-England u-Elizabeth Tudor.

Izizathu ezibalulekileyo zokuphuhliswa kwezilwanyana

Njengoko sele kukhankanywe, i-Morris syndrome (i-testicular femineisation syndrome) yiphumo lesiphene kwi-AR gene. Utshintsho oluthile luchaphazela abantu abafumana i-hormones ye-androgen, ngenxa yoko ayenokuthi bangabi nabuhlungu. Ngokomphando, i-syndrome idluliselwa kunye nohlobo oluxubileyo lwe-X, kwaye umphathiswa wezityalo eziphene, njengomthetho, ngumama. Ngakolunye uhlangothi, ukuguqulwa kwamanye amazwe kumntwana okhulelwe ngabazali ababini abanempilo ngokupheleleyo, kodwa loo nto ibhalwa ngokuthe rhoqo.

Kwinkqubo yokuphuhliswa kwamanzi, i-gonads (gonads) ye-fetus yenziwa ngokwekaryotype - umntwana unamathelethi apheleleyo. Kodwa ngenxa yomonakalo kwimfuza, izicubu zithenganga (ingacabangi) kwi-testosterone kunye ne-dehydrosterone, ejongene nokubunjwa kwe-penis, i-scrotum, urethra kunye neprotate. Ngexesha elifanayo, uvelwano lwezicubu kwi-estrogen lugcinwa, olubonisa ukuphuhliswa okuqhubekayo kwamalungu omzimba wesini (ngaphandle kweyesibeleko, izibilini ze-fallopian kunye nesithathu esezwini lesisini).

Ifom epheleleyo ye-syndrome kunye nezixhobo zayo

I-testicular femineisation syndrome (i-Morris) inokuhamba kunye nokulahlekelwa ngokupheleleyo kwe-receptor sentisterone. Kwiimeko ezinjalo, umntwana one-genotype yesilisa (kukho i-Y chromosome), isisu somzimba wesini, kodwa i-genitalia yangaphandle yowesifazane, iyazalwa.

Aba bantwana abanalo i-scrotum ne-penis, kwaye iimvavanyo zihlala kwisigxina esiswini. Kunoko, kukho i-labia kunye ne-outer labia. Ngokuqhelekileyo oogqirha kwiimeko ezinjalo baxoxa ngokuzalwa kwentombazana. Uncedo, izigulane zithatha, ngokusemthethweni, ekufikeni kwentsha kunye nezikhalazo malunga nokungabikho kokuya esikhathini. Ngendlela, impawu zesini zesibini zengqondo zikhula ngohlobo lwentlobokazi (ukungabikho kokuguquguquka kwezwi, ukukhula kweenwele, ukwandiswa kweengcingo zamathambo). Ngoviwo olubanzi, ugqirha ugqiba ubukho be-gonads zesini kunye nesethi ethile yama-chromosomes.

Ngokuqhelekileyo, ukuxilongwa kwe "testicular femineisation syndrome" sele kufunwa ngabafazi abasetyhini abaya kwiingcali malunga ne-amenorrhea kunye nokungabikho komntwana.

Ifomu engapheliyo ye-Morris syndrome kunye neqondo lophuhliso lwayo

I-testicular femineisation syndrome kumadoda inokuthi ihambe kunye nokuncipha kwincinane kwi-senstovity to testosterone. Kwiimeko ezinjalo, iisethi zeempawu zingase zihluke ngakumbi. Ngowe-1996, inkqubo yokuhlelwa kwenkqubo yadalwa, ngokubhekiselele kuyo iifom e zintlanu zezi zifo.

• Isigaba sokuqala, okanye uhlobo lomntu . Umntwana une-phenotype yesintu esichazwayo kwaye ikhula ngaphandle kokuphazamiseka okuphawulekayo. Ngamanye amaxesha, ubuntwaneni buhamba kunye nokunyuka kweengcambu zeemfesane kunye neenguqu ezingenakuguquleka kwizwi. Kodwa kwizigulane kunokuhlala kuphulwa kwe-spermatogenesis, okubangelwa ukungapheli.
• Isiganga sesibini (ngokukodwa uhlobo lwesilisa). Uphuhliso lwenzeka ngokohlobo lwendoda, kodwa ngezinye iziphene. Ngokomzekelo, kunokwenzeka ukwakha i-micropeniasis kunye ne-hypospadias (ukufuduka kwe-orifice yangaphandle ye-urethra). Ngokuqhelekileyo izigulane zixhatshazwa yi-gynecomastia. Kukho ukungabikho kokungalingani kwamanqatha angaphantsi.
• Isiganga sesithathu, okanye uphuhliso lwoluhlobo olungenakulinganiswa. Kwizigulane, ukwehla okuphawulekayo kwi-penis kuyabonwa. Ukuguqulwa kunye ne-scrotum-ngamanye amaxesha kwimo ifana ne-outer labia. Kukho ukufuduka kwe-urethra, kwaye amaninzi amathambo awayehla kwi-scrotum. Kukho iimpawu zesibhinqa - ukunyuka kwebele, uhlobo lomzimba (isitya esikhulu, amanxeba amancinci).
• Isiqendu sesine (uhlobo oluthile lwabasetyhini) . Izigulane kweli qela zinamaqabane amabhinqa. Amathambo ahlala kwisigxina esiswini. I-genitalia yamancinci ephuhlisiwe, nangona kunjalo, ngezinye iziphene. Ngokomzekelo, umfazi omncinci "ongenalumfama" uyakheka emntwaneni, kwaye i-clitoris idlalwa ngokuphindaphindiweyo kwaye ifana ne-micropeniasis.
• Isiqingatha sesithandathu, okanye uhlobo lomfazi . Le fom yokugula ihambelana nokubunjwa kwemimiselo yesibini - umntwana uzalelwa intombazana. Nangona kunjalo, kukho ukuphambuka. Ngokukodwa, izigulane zihlala zibona ukwanda kwe-clitoris.

Yiyo le mpawu ehambelana ne-testicular feminezation syndrome. Ukuzaliswa nge-pathology enjalo akunakwenzeka - umzimba wesigulane awuvelisi amaseli ezintsholongwane, kunye nezitho zangaphakathi zesibhobho azikho okanye zingakhiwanga ngokupheleleyo.

Ngokwezibalo, abantu abane-diagnostic bahlala behlushwa yi-hernias inguinal, ehambelana nokuphulwa kwendima yamathambo ngokusebenzisa umjelo ongasisigxina. Ngenxa yokufuduka kokuvula kwangaphandle kwe-urethra, umngcipheko wokuphuhlisa izifo ezahlukahlukeneyo ezivela kwi-urinary system (umzekelo, i-pyelonephritis, urethritis, nezinye izifo ezivuthayo) ziyanda.

Inkqubo yokuxilonga

Ukuxilongwa kwesifo esinjalo yinkqubo ende. Iquka iinkqubo ezininzi:

• Ekuqaleni udokotela uqokelela i-anamnesis. Kwinkqubo yokubuza, kuyimfuneko ukufumanisa ukuba umntwana unakho ukukhubazeka okuphuhlisayo emva kokuzalwa okanye ngexesha lokukhulelwa. Imbali yentsapho (nokuba kukho ukuphambukiswa okufanayo okanye ukutshitshiswa kwiintsapho) kuhlalutyo kwakhona.
• Ibakala elibalulekileyo ukuhlolwa ngokomzimba, ngexesha apho ingcali inokuqaphela ukuba khona kwezinto ezingaqhelekanga kwisakhiwo somzimba kunye ne-genitalia yangaphandle, uhlobo lweenwele, njl. Ukukhula kunye nesisindo somguli kulinganiswa. Uphando olongezelelweyo lufunekayo ukuchonga izidumbu.
• I-karyotyping eqhutywayo yenziwa-inkqubo eyenza ukuchonga ubungakanani kunye nomgangatho wama-chromosomes, okwenza kube lula ukufumana isondo ngesigulane.
• Ukuba kuyimfuneko, kuqhutyelwa isifundo semfuyo yee-molecular, apho idilesi kunye neendidi zegesi ezilinakalisiweyo zichongiwe.
• Imbopheleleko ngumbhalo we-urologist - ugqirha uhlola isakhiwo kunye neempawu ze-genitalia yangaphandle, i-palpates i-prostate, njl njl.
• Igazi lithathwa ukuze lihlalutye ukujonga izinga lamahomoni.
• Ukwazisa kwakhona ukuhlolwa kwe-ultrasound. Le nkqubo yenza kube lula ukuchonga okungaqhelekanga kwisakhiwo sezitho zangasese zangaphakathi, ukufumanisa amathambo angaphili, nokufumanisa izifo ezithintekayo.
• Ulwazi oluchanekileyo kwisakhiwo sezitho zangaphakathi lufumaneka kwi-imagination yamagnetic imagination okanye tomography.

I-Testicular femineisation syndrome: unyango

Unyango kulolu xanduva ngqo kuxhomekeke kwiminyaka yesigulane kunye nesantya sokungahloniphi kwamkeleki kwi-androgen hormone. Ukunyangwa kwamayeza e-hormonal okufunekayo, okuvumela ukuphelisa ukulahleka kwe-androgen, ukunceda ukwenza iziganeko ezifanelekileyo zesini zesini, kunye nokuphelisa imiphumo enokuthi yenzeke ekuphuhliseni.

Kubalulekile ukuqonda ukuba ingqondo ye-psychotherapy ibaluleke kakhulu-isigulane sidinga ukunxibelelana rhoqo kunye neengcali. Emva koko, ngokwemibare, u-hermaphroditism wamanga ngokuqhelekileyo kukhokelela ekuphuhlisweni kwengcinezelo yeklinikhi. Ukuba utshintsho lufunyaniswa ngengozi xa lukhulile (lukhuseleko olupheleleyo lwe-receptors kwi-testosterone), ugqirha unokuthatha isigqibo sokuba angaxeleli lo mbhinqa ohlala ubomi obuzeleyo aze azibonakalise njengeloncedo olufanelekileyo.

Kufuneka nini ukuhlinzwa?

Iingxaki ezininzi zingasombululwa ngoncedo lweenkqubo ezizodwa. Izigulane ezineenkcukacha ze-phenotype zonyango zokususwa kwamathambo. Le nkqubo iyimfuneko, kuba inqanda ukuphuhliswa kwe-hernias kunye nokuphuhliswa okuqhubekayo kwempawu zesini zesini. Ukongezelela, le nkqubo inokuthintela umdlavuza womhlaza.

Ukuba ukuphuhliswa komzimba kwenzeka ngokohlobo lwentlobokazi, ngoko ngamanye amaxesha iplastiki yezilwanyana zangasese kunye nezitho zangasese zomzimba zifunwa, okwenza kube lula ukulala ngesondo. Ngokugqithiseleyo, unokuphelisa ukufuduka kwephepha lomchamo.

Xa isigulane sikhula ngohlobo lwendoda, ngamanye amaxesha kuyimfuneko ukurhoxisa i-spermatic duct kwi-scrotum. Ekubeni amadoda amaninzi afumana ukuxilongwa okufanayo aphethwe yi-gynecomastia, ngokuqhelekileyo uqhutywe ngophando lweplastiki lwesifuba, oluya kunceda ukubuyisela umzimba kwiifom zendalo.

Iziganeko zezigulane kunye neengxaki ezinokwenzeka

I-testicular femineisation syndrome (Morris) ayisongelo lobomi. Umzimba usebenza ngokuqhelekileyo nangona ukungaqiniseki ngokupheleleyo kwiimithi ze-androgenic. Emva kokungenelela ngonyango kunye nokunyangwa, isigulane sinokuphila ubomi obusisigxina somfazi, esinekaryotype yamadoda. Kodwa kukho isisongelo sokwenza umdlavuza we-testicular ongangena kwi-scrotum - kwiimeko ezinjalo, amanyathelo kufuneka athathwe. Ukuthintela ukuphuhliswa komhlaza, ukususwa kweendlela zokuvuthwa kweemvavanyo kwi-scrotum (ukuba isigulane sinomntu we-phenotype) okanye ukususwa ngokupheleleyo kweengqungquthela (kunye ne-phenotype yabesifazane).

Ngokubhekisele kwezinye iimeko ezinzima, oko kuluhlu lwabo kubonakala kunokwenzeka ukuba babonekeleleka koonxibelelwano bezocansi (ukwakheka okungalungileyo kwezitho zangasese), ukuphazamiseka kokungcungcutheka (ngexesha lokuphuhliswa kwesistim somzimba we-urino, isalathisi se-urinary ishintshiwe). Izigulane zingenamntwana kungakhathaliseki i-phenotype. Musa ukulibala malunga nobunzima bezenhlalakahle, kuba kungengabantwana bonke kwaye ngoko-ke umntwana ulawula ukuqonda iimpawu zomzimba wakhe. Kakade ke, iingxaki zesifo somzimba, kwakunye nokukhubazeka kwenkqubo yokuzikhethela, zinokupheliswa ngexesha lokungenelela kokuhlinzwa. Iziganeko zokugulisa izigulane zilungile nakweyiphi na imeko.

Ngaba kukho naziphi na izicwangciso zokukhusela?

Ngelishwa, akukho zindlela ezinokuthintela ukuvela kwesifo esinjalo. Kodwa, ekubeni i-syndrome yenkwenkwezi yezilwanyana isifo sofuzo, ingozi yokuphuhliswa kwayo ingabonakaliswa kwinqanaba lokucwangcisa ukukhulelwa - abazali abazayo kufuneka badlulise iimvavanyo.

Ngokubhekisele kwizigulane ezineengxaki zokufumana unyango, zifuna unyango olufanelekileyo, kunye neemviwo zonyango rhoqo, unyango lwe-hormonal.