Izici zobulili ezisemqoka nezesibili, ama-hormone anomthwalo wemfanelo, ezinye zazo zikhiqizwa ezigulini eziyingozi. Kukhona isifo esingazalwa esivela ukungasebenzi kwalezi zinhlayiya ze-endocrine nokukhululwa ngokweqile kwe-androgens. Ukudlula ama-hormone wesilisa omzimba emzimbeni kuholela ekushintsheni okuphawulekayo kwisakhiwo somzimba.
I-Adrenogenital Syndrome - Izimbangela
Ukukhubazeka okucatshangelwayo kubangelwa ukuguquguquka kwezakhi zofuzo ezizalwa njengefa. Ngokuvamile akutholakali ukuthi, izifo ze-adrenogenital syndrome yi-1 icala ngo-5000-6500. Ukuguqulwa kwekhodi yezakhi zofuzo kubangela ukwanda kobukhulu kanye nokuwohloka kwe-cortex ye-adrenal. Ukukhiqizwa kwama-enzyme akhethekile ahlanganyela ekukhiqizeni i-cortisol ne-aldosterone kuncishisiwe. Ukuntuleka kwabo kuholela ekukhuleni kwamakhomoni angama-sex hormones.
I-Adrenogenital syndrome - isigaba
Ngokuya ngesilinganiso sokukhula kwe-adrenocortical kanye nobukhulu bezimpawu, izifo ezichazwe zikhona ngezimo eziningana. Amafomu we-adrenogenital syndrome:
- usawoti-ukulahlekelwa;
- i-viril (elula);
- i-post-pubertal (nonclassical, i-atypical).
I-Adrenogenital syndrome - ifomu likasawoti
Uhlobo olujwayelekile kakhulu lwe-pathology, olutholakala ezinsana noma ezinganeni zonyaka wokuqala wokuphila. Njengoba uhlobo lokulahlekelwa usawoti lwe-adrenogenital syndrome, ibhalansi ye-hormonal iphazamiseka futhi umsebenzi we-cortex adrenal ayanele. Lolu hlobo lwesifo luhambisana nokuhlushwa okuphansi kakhulu kwe-aldosterone. Kubalulekile ukulondoloza ukulinganisela kwamanzi usawoti emzimbeni. Le syndrome ye-adrenogenital igqugquzela ukuphulwa komsebenzi wenhliziyo futhi igxume ekucindezelekeni kwegazi. Lokhu kwenzeka ngokumelene nesizinda sokuqoqwa kosawoti ezinso.
I-Adrenogenital syndrome iyifomu le-viril
Ukuhluka okulula noma okuvamile kwesigaba sokukhubazeka akuhambisani nezimo zokungasebenzi kahle. I-adrenogenital syndrome ehlongozwayo (ifomu le-ACS viril) iholele kuphela ekushintsheni kobulili bangaphandle. Loluhlobo lwesifo luphinde lutholakale ukuthi usemncane noma ngokushesha ngemva kokubeletha. Ngaphakathi ohlelweni lokuzala luhlala lungavamile.
I-Postpubertate ifomu le-adrenogenital syndrome
Loluhlobo lwesifo lubizwa nangokuthi i-atypical, etholakalayo futhi engeyona ye-classical. I-adrenogenital syndrome enjalo ibonakala kuphela kwabesifazane abanompilo osebenzayo ngokocansi. Isizathu sokuthuthukiswa kwe-pathology kungaba kokubili ukuguquguquka kokuzalwa komzimba kwezakhi zofuzo, kanye nesifo se-correx e-adrenal . Lesi sifo sivame ukuhambisana nokungasebenzi, ngakho-ke ngaphandle kokwelapha okwanele, i-adrenogenital syndrome nokukhulelwa yizici ezingavumelani. Ngisho nangomqondo ophumelelayo, ingozi yokukhulelwa kwesisu iphezulu, ingane ibulawe ngisho naseziqenjini zokuqala (amasonto angu-7-10).
I-Adrenogenital syndrome - izimpawu
Umfanekiso wesitholampilo we-genetic anomaly echazwe ngokuvumelana nesimo nesimo sesifo. I-adrenogenital syndrome ezisanda kuzalwa ingase inganqunywa ngezinye izikhathi, ngenxa yalokho okungaqondakali ukuthi ingane yakho ingaboni kahle. Izimpawu ezicacile ze-pathology zibonakala kusukela eminyakeni engu-2-4, kwezinye izimo kubonakala kamuva, ekukhuleni noma ekuvuthweni.
I-Adrenogenital syndrome kubafana
Ngokasawoti-ukulahlekelwa uhlobo lwesifo, iziphazamiso zokuphazamiseka kokulinganisa usawoti lwamanzi ziyabonakala:
- isifo sohudo;
- ukuhlanza okukhulu;
- umfutho wegazi ophansi;
- ukuxubha;
- i-tachycardia;
- ukulahlekelwa isisindo.
I-adrenogenital elula ye-syndrome ebantwaneni besilisa inezimpawu ezilandelayo:
- ipenisi ekhulisiwe;
- ukugqunywa kwesikhumba ngokweqile kwe-scrotum;
- i-epidermis emnyama ejikeleze i-anus.
Abafana abasha abavame ukutholakala ngoba isithombe somtholampilo osencane sichazwe kabi. Kamuva (kusukela eminyakeni emibili) i-adrenogenital syndrome ibonakala kakhulu:
- ukukhula kwezinwele emzimbeni, kuhlanganise nezitho zangasese;
- izwi eliphansi, elibi;
- i-hormonal acne (i- acne vulgaris);
- masculinization;
- ukusheshiswa kwamathambo okwakheka;
- isiqu esifushane.
I-Adrenogenital syndrome emantombazaneni
Ukuchaza ukuthi ukugula okucatshangelwe kubantwana besifazane kulula, kuhambisane nalezi zimpawu:
- i-clitoris ye-hypertrophic, ebukeka kakhulu njenge-penis;
- ama-labia amakhulu, abukeka njenge-scrotum;
- i-vagina kanye ne-urethra zihlangene zibe yisono se-urogenital.
Ngokumelene nesimiso sezibonakaliso zezingane ezisanda kuzalwa, amantombazane ngezinye izikhathi akhohliswa ngabafana futhi akhuliswe ngokuhambisana nobulili obubi. Ngenxa yalokhu, esikoleni noma ebusheni, lezi zingane zivame ukuba nezinkinga ezingokwengqondo. Ngaphakathi kwendlela yokuzala yale ntombazane ihambelana ngokuphelele ne-genotype yabesifazane, yingakho uzizwa engowesifazane. Ingane iqala ukungqubuzana kwangaphakathi nezinkinga zokuzivumelanisa nomphakathi.
Ngemuva kweminyaka emibili, i-congenital adrenogenital syndrome ibonakala yizimpawu ezilandelayo:
- ukukhula kusenesikhathi kwezinwele zokushicilela kanye nezimpumputhe;
- imilenze emifushane nezikhali;
- i-muscularity;
- ukubukeka kwezinwele zobuso (ngeminyaka engu-8);
- umzimba womuntu (amahlombe avulekile, isikhumba esincane);
- ukungabikho kokukhula kwezigulane ezincelisayo;
- ukukhula okuphansi kanye nesibindi esikhulu;
- izwi elibi;
- i-acne disease;
- ukuqala kwesikhathi kokuya esikhathini (akukho ngaphambi kweminyaka engu-15-16);
- umjikelezo ongaguquki, ukulibaziseka okujwayelekile esikhathini;
- i-amenorrhea noma i-oligomenorrhea;
- ukungabi namuntu;
- Ukucindezeleka kwegazi kuqhuma;
- ukugqunywa ngokweqile kwe-epidermis.
I-Adrenogenital syndrome - ukuxilongwa
Izifundo ze-Instrumental kanye ne-laboratory zisiza ukukhomba i-hyperplasia nokungasebenzi kwe-cortex ye-adrenal. Ukuze uhlolisise i-adrenogenital congenital syndrome ezinganeni, ukuhlolwa okuphelele kwezitho zangasese kanye ne-computed tomography (noma i-ultrasound) kwenziwa. Ukuhlolwa kwe-hardware kungathola ama-ovari nesibindi emantombazaneni anomzimba wesilisa.
Ukuqinisekisa ukuxilongwa okusolwayo, ukuhlaziywa kwe-laboratory ye-adrenogenital syndrome kwenziwa. Kuhlanganisa ukucwaninga umchamo negazi kokuqukethwe kwamahomoni:
- 17-OH-progesterone;
- i-aldosterone;
- i-cortisol;
- 17-ketosteroids.
Ukwengezwa okunikeziwe:
- i-biochemistry ;
- ukuhlolwa kwegazi emtholampilo;
- ukuhlolwa okujwayelekile komchamo.
Ukwelashwa kwe-adrenogenital syndrome
Ngeke ukwazi ukuqeda ukuhlolwa kwesifo sezakhi zofuzo, kepha ukubonakaliswa kwayo kwemitholampilo kungasuswa. I-Adrenogenital syndrome - izincomo zomtholampilo:
- Ukwamukela impilo yonke izidakamizwa ze-hormonal. Ukujwayelekile ukwenza umsebenzi we-cortex e-adrenal nokulawula ibhalansi ye-endocrine, kuzodingeka uphuze njalo i-glucocorticoids. Ukukhetha okukhethwa yiDexamethasone. Isilinganiso sibalwa ngabanye futhi sisukela ku-0.05 kuya ku-0.25 mg ngosuku. Ngokasawoti-ukulahlekelwa uhlobo lwesifo, kubalulekile ukuthatha i-corticoids yamaminerali ukuze kulondolozwe ibhalansi yamanzi usawoti.
- Ukulungiswa kokubukeka. Iziguli ezine-diagnostic echazweyo zinconywa ukuba zibe neplastiki yangasese, i-clitorectomy nezinye izinyathelo zokuhlinzekwa okuhlinzekwa ukuqinisekisa ukuthi izitho zangasese zinesimo esifanele nesayizi.
- Ukubonisana njalo nesazi sengqondo (ngesicelo). Ezinye iziguli zidinga usizo ekuzivumelaneni kwezenhlalakahle kanye nokwamukelwa kwabo njengomuntu ogcwele.
- Ukukhuthazwa kwe-ovulation. Abesifazane abafuna ukukhulelwa badinga ukuba bafunde imithi ekhethekile eqinisekisa ukulungiswa komjikelezo wokuya esikhathini nokukhishwa kokukhiqizwa kwe-androgen. I-glucocorticoids ithathwa phakathi nesikhathi sonke sokukhulelwa.