Tusitala: Clyde Lopez
Aso O Foafoaga: 17 Iuli 2021
Faafouga Aso: 11 Tesema 2024
Anonim
Congenital adrenal hyperplasia : Etiology ,Pathophysiology ,Clinical features ,Diagnosis ,Treatment
Ata: Congenital adrenal hyperplasia : Etiology ,Pathophysiology ,Clinical features ,Diagnosis ,Treatment

Anotusi

O le a le suʻega e 17-hydroxyprogesterone (17-OHP)?

O lenei suʻega e fua ai le aofaʻi o le 17-hydroxyprogesterone (17-OHP) i le toto. 17-OHP o se homone faia e le adrenal glands, lua glands tu i luga o fatugaʻo. O le adrenal glands faia tele homone, aofia ai ma le cortisol. E taua le Cortisol mo le faʻatumauina ole toto, suka ile toto, ma nisi galuega ole vaega puipuia. 17-OHP faia o se vaega o le gaioiga o le gaosia o le cortisol.

O se suʻega e 17-OHP e fesoasoani e faʻailoaina se maʻi e seasea tupuʻaga e taʻua ole congenital adrenal hyperplasia (CAH). I le CAH, o se suiga o le kenera, ua lauiloa o le fesuiaʻiga, e puipuia ai le adrenal gland mai le faia o le tino o le tino. A o galue malosi le adrenal glands e faʻatele le cortisol, latou te gaosia faʻaopopo 17-OHP, faʻatasi ai ma nisi homone feusuaʻiga tane.

E mafai e le CAH ona mafua ai le le lelei o atinaʻe o itutino feusuaʻi ma uiga faʻafeusuaiga. Faʻailoga o le faʻamaʻi mai le agamalu i le ogaoga. Afai e le togafitia, o le sili atu ogaoga ituaiga o CAH mafai mafua mafua matuia faʻalavelave, e aofia ai le lava vai, maualalo le toto maualuga, ma faaletonu fatu (arrhythmia).


Isi igoa: 17-OH progesterone, 17-OHP

O le a le mea e faʻaaoga ai?

O le suʻega e 17-OHP e masani ona faʻaaoga e suʻe ai le CAH i pepe fou. E mafai foi ona faʻaaogaina e:

  • Faʻamaonia le CAH i tamaiti matutua ma tagata matutua oe ono maua i se ituaiga agamalu o le faʻamaʻi. I le sili agamalu CAH, auga ono aliaʻe mulimuli ane i le olaga, pe o nisi taimi leai.
  • Mataitu togafitiga mo CAH

Aisea ou te manaʻomia ai se suʻega 17-OHP?

E manaʻomia e lau pepe se suʻega e 17-OHP, e masani lava ile 1-2 aso talu ona fanau mai. 17-OHP suʻega mo CAH o loʻo manaʻomia nei e le tulafono o se vaega o pepe faatoa suʻesuʻe. O le siakiina o le pepe faatoa fananau mai ose suʻega faigofie lea ile siakiina o ituaiga o faʻamaʻi tuga.

Tamaiti matutua ma tagata matutua ono ono manaʻomia suʻega pe a fai o latou faʻailoga o le CAH. O le a eseʻese faʻailoga faʻalagolago i le ogaoga o le faʻamaʻi, le tausaga pe a aliaʻe faʻailoga, ma pe o oe o se aliʻi poʻo se fafine.

Faʻailoga o le sili ona ogaoga foliga o le faʻamaʻi masani ona faʻaalia i totonu o le 2-3 vaiaso talu ona fanau mai.

Afai na fanau lau pepe i fafo atu o le Iunaite Setete ma e leʻi mauaina se pepe fou, atonu latou te manaʻomia se faʻataʻitaʻiga pe a fai e maua se tasi pe sili atu foʻi o faʻailoga nei:


  • Ituaiga e le o manino tama poʻo le fafine (ambiguous genitalia)
  • Faʻamaligiina
  • Faʻalu ma isi faʻafitauli tau fafagaina
  • Le masani a fatu fatu (arrhythmia)

Tamaiti matutua atonu e leai ni faʻailoga seʻi vagana ua matutua. I teine, faʻailoga o le CAH aofia ai:

  • E le masani taimi o paʻu, pe leai ni vaitaimi
  • Vave le aliali mai o lauulu ma / poʻo le laulu
  • Ova lauulu i foliga ma le tino
  • Leo loloto
  • Faʻateleina kalapu

I tama, faʻailoga aofia ai:

  • Ua faʻateleina le penis
  • Uluaʻi taimi o le talavou (muamua amata)

I tama ma fafine matutua, faʻailoga e mafai ona aofia ai:

  • Fanau (o le le mafai ona maitaga pe maua se paʻaga maʻitaga)
  • Maʻi fuafua

O le a le mea e tupu i le taimi o le 17-OHP suʻega?

Mo se suʻesuʻega faatoa fanau mai, o le a faʻamamaina le mulivae o lau pepe i le ava malosi ma tui le mulivae ma se nila laitiiti. O le a tuʻuina mai e le tagata faʻatutu ni nai mataua o le toto ma faʻapipiʻi i luga o le upega tafailagi.


I le taimi o le suʻega toto mo tamaiti matutua ma tagata matutua, o le tagata faigaluega soifua maloloina o le a ave se toto faʻataʻitaʻiga mai se uaua i lou lima, faʻaaoga ai se tamaʻi nila. A maeʻa ona tuʻu i totonu le nila, o le a faʻaputuputuina se vaega laʻititi o le toto i totonu o se faʻamaoniga poʻo se ipu. Atonu e te lagonaina sina tiga pe a alu le nila i totonu pe fafo. Lenei masani ona alu ifo i lalo o le lima minute.

Mata e tatau ona ou faia se mea e sauniuni ai mo le suʻega?

E leai ni sauniuniga faʻapitoa e manaʻomia mo se suʻega 17-OHP.

E i ai ni lamatiaga i le suʻega?

E laʻititi lava se faʻafitauli e tupu ia oe poʻo lau pepe ile suʻega ole 17-OHP. E i ai sina tiga poʻo se tiga i le mea na tuu ai le nila, ae o le tele o faʻailoga e vave ona alu ese. Atonu e lagona e lau pepe sina tamaʻi tipi pe a tui le mulivae, ma ono paʻu le maʻamaʻi i le nofoaga. Lenei e tatau ona vave alu ese.

O le a le uiga o faʻaiuga?

Afai o iʻuga faʻaalia ai maualuga tulaga o le 17-OHP, e foliga mai o oe poʻo lau tama e maua CAH. E masani lava, o maualuga maualuga tulaga o lona uiga o se sili atu ogaoga fomaʻi o le tulaga, ae feololo tulaga maualuga e masani lava o le agamalu foliga.

Afai o oe poʻo lau tama o loʻo togafitia mo le CAH, o le maualalo o le 17-OHP atonu o lona uiga o loʻo galue le togafitiga. Togafitiga ono aofia ai vailaʻau e sui ai le misia cortisol. O isi taimi e fai ai taotoga e suia ai foliga vaaia ma galuega a itoto.

A iai ni au fesili e uiga i iʻuga o lau tama poo lau tama, talanoa i lau fomaʻi.

Aʻoaʻo atili e uiga i suʻesuʻega falesuesue, vaitau o faʻasino, ma malamalamaaga i iʻuga

E i ai seisi mea e tatau ona ou iloa e uiga i le 17-OHP suʻega?

Afai o oe poʻo lau tama ua faʻamaonia e maua i le CAH, atonu e te manaʻo e faʻafesoʻotaʻi ma se fesoasoani i le kenera, o se faʻapitoa faʻapitoa tomaiina i genetics. CAH o le faʻamaʻi lea e tatau ona i ai i matua uma le fesuiaiga o gafa e mafua ai CAH. O se matua e ono avea ma aveina le kenera, o lona uiga latou te maua le kenera ae masani ona leai ni faʻailoga o faʻamaʻi. Afai o matua uma o le feaveaʻi, tamaiti uma maua le 25% avanoa o le maua le tulaga.

Faʻamatalaga

  1. Cares Foundation [Initaneti]. Iuni (NJ): Cares Foundation; c2012. O le a le Congenital Adrenal Hyperplasia (CAH) ?; [taʻua 2019 Aug 17]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.caresfoundation.org/what-is-cah
  2. Eunice Kennedy Shriver National Institute of Tamaiti Soifua Maloloina ma Tagata Atinaʻe [Initaneti]. Rockville (MD): U.S. Matagaluega o le Soifua Maloloina ma Tagata Auaunaga; Congenital Adrenal Hyperplasia (CAH): Tulaga Faʻamatalaga; [taʻua 2019 Aug 17]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.nichd.nih.gov/health/topics/cah/conditioninfo
  3. Hormone Health Network [Initaneti]. Sosaiete Endocrine; c2019. Fanau Adrenal Hyperplasia; [faafou 2018 Sep; taʻua 2019 Aug 17]; [pe a ma le 2 pupuni] Avanoa mai: https://www.hormone.org/diseases-and-conditions/congenital-adrenal-hyperplasia
  4. Tamaiti Soifua Maloloina mai Nemours [Initaneti]. Jacksonville (FL): Le Nemours Foundation; i1995–2019. Fanau Adrenal Hyperplasia; [taʻua 2019 Aug 17]; [pe a ma le 2 pupuni] Avanoa mai: https://kidshealth.org/en/father/congenital-adrenal-hyperplasia.html
  5. Tamaiti Soifua Maloloina mai Nemours [Initaneti]. Jacksonville (FL): Le Nemours Foundation; i1995–2019. Suʻega ole Suʻesuʻega ole Fanau Fanau; [taʻua 2019 Aug 17]; [pe a ma le 2 pupuni] Avanoa mai: https://kidshealth.org/en/father/newborn-screening-tests.html
  6. Lab Tofotofoga lugalaina [Initaneti]. Uosigitone D.C. American Association mo vailaʻau Togafitiga; c2001–2019. 17-Hydroxyprogesterone; [faʻafouina 2018 Tes 21; taʻua 2019 Aug 17]; [pe a ma le 2 pupuni] Avanoa mai: https://labtestsonline.org/tests/17-hydroxyprogesterone
  7. Lab Tofotofoga lugalaina [Initaneti]. Uosigitone D.C. American Association mo vailaʻau Togafitiga; c2001–2019. Fafuafua; [faafou 2017 Nov 27; taʻua 2019 Aug 17]; [pe a ma le 2 pupuni] Avanoa mai: https://labtestsonline.org/conditions/infertility
  8. National Cancer Institute [Initaneti]. Bethesda (MD): U.S. Matagaluega o le Soifua Maloloina ma Tagata Auaunaga; NCI Lomifefiloi o Kanesa Aiaiga: faufautua fesoasoani; [taʻua 2019 Aug 17]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.cancer.gov/publications/dictionaries/cancer-terms/def/794108
  9. Nofoaga Tutotonu a le Atunuʻu mo le Faʻalauteleina o Faʻamatalaga Faʻasaienisi: Genetic and Rare Diseases Information Center [Initaneti]. Bethesda (MD): U.S. Matagaluega o le Soifua Maloloina ma Tagata Auaunaga; 21-hydroxolase le lava; [faafou 2019 Aperila 11; taʻua 2019 Aug 17]; [pe a ma le 2 pupuni] Avanoa mai: https://rarediseases.info.nih.gov/diseases/5757/21-hydroxylase-deficiency
  10. The Magic Foundation [Initaneti]. Warrenville (IL): Magic Foundation; c1989–2019. Fanau Adrenal Hyperplasia; [taʻua 2019 Aug 17]; [tusa o le 4 pupuni] Avanoa mai: https://www.magicfoundation.org/Growth-Disorder/Congenital-Adrenal-Hyperplasia
  11. Mati o Taimi [Initaneti]. Arlington (VA): Mati o Dimes; c2020. Suʻega ole Suʻesuʻega ole Fanau Mai Mo Lau Pepe; [taʻua 2020 Aug 8]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx
  12. UF Soifua Maloloina: Iunivesite o Florida Soifua Maloloina [Initaneti]. Gainesville (FL): Iunivesite o Florida Soifua Maloloina; c2019. 17-OH progesterone: Vaaiga aoao; [faafou 2019 Aug 17; taʻua 2019 Aug 17]; [pe a ma le 2 pupuni] Avanoa mai: https://ufhealth.org/17-oh-progesterone
  13. UF Soifua Maloloina: Iunivesite o Florida Soifua Maloloina [Initaneti]. Gainesville (FL): Iunivesite o Florida Soifua Maloloina; c2019. Congenital adrenal hyperplasia: Aotelega; [faafou 2019 Aug 17; taʻua 2019 Aug 17]; [pe a ma le 2 pupuni] Avanoa mai: https://ufhealth.org/congenital-adrenal-hyperplasia

O faʻamatalaga i luga o lenei 'upega tafaʻilagi e le tatau ona faʻaaogaina e fai ma sui o fomaʻi faʻapitoa togafitiga poʻo fautuaga. Faʻafesoʻotaʻi le au tausi soifua pe a iai ni au fesili e uiga i lou soifua maloloina.

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