ʻO genitalia ambiguous

ʻO ka genigu ambiguous kahi kīnā hānau kahi o nā ʻōiwi waho i ʻole ke ʻano maʻamau o ke keikikāne a kaikamahine paha.

Hoʻoholo ʻia ka moekolohe kāne o kahi keiki i ka hāpai ʻana. Aia i loko o ka ʻāpana manu o ka makuahine ka chromosome X, ʻoiai ʻo ka cell sperm o ka makuakāne kahi X a i ʻole Y chromosome. ʻO kēia mau chromosome X a me Y e hoʻoholo i ka moekolohe kāne o ke keiki.

ʻO ka maʻamau, loaʻa i kahi pēpē he 1 mau chromosome moekolohe, 1 X mai ka makuahine a me 1 X a i ʻole hoʻokahi Y mai ka makuakāne. "Hoʻoholo" ka makuakāne i ka moekolohe kāne o ke keiki. ʻO kahi pēpē i hoʻoilina i ka X chromosome mai ka makuakāne he wahine genetic a he 2 X chromosome. ʻO kahi pēpē i hoʻoilina i ka Y chromosome mai ka makuakāne he kāne kāne ia a loaʻa iā 1 X a me 1 Y chromosome.

ʻO ke kāne a me ka wahine nā mea hānau a me nā genital ʻelua mai ka mea like i ka fetus. Hiki ke hoʻomohala i ka genigu ambiguous inā hoʻōha ʻia ke kaʻina hana i kumu e lilo ai kēia kiko fetal i "kāne" a i ʻole "wahine". He mea paʻakikī kēia e hoʻomaopopo maʻalahi i ke pēpē ma ke ʻano he kāne a wahine paha. ʻOkoʻa ka nui o ka kānalua. Kākaʻikahi loa ka hoʻomohala ʻia ʻana o ka helehelena o ke kino ma ke ʻano he ʻokoʻa o ka moekolohe. ʻO kahi laʻana, hoʻomohala ʻia paha e kahi kāne kāne kūpuna ke ʻano o ka wahine maʻamau.

I ka hapanui o nā hihia, aia nā ʻano genigu ambiguous i nā wahine genetika (nā pēpē me 2 X chromosome):

• ʻO kahi clitoris hoʻonui ʻia e like me kahi peni liʻiliʻi.
• ʻO ka wehe o ka urethral (kahi e puka ai ka mimi) hiki i nā wahi āpau, ma luna, a ma lalo paha o ka papa o ka clitoris.
• Pākuʻi ʻia paha ka labia a like me ka scrotum.
• ʻO ke pēpē paha e manaʻo ʻia he kāne me nā testicle undescended.
• I kekahi manawa ʻike ʻia kahi puʻupuʻu o nā kiko i loko o ka labia i hoʻopili ʻia, e hana hou ana e like me ka scrotum me nā testicle.

I loko o kahi kāne kāne kūpuna (1 X a me 1 Y chromosome), hoʻopili pinepine ka geniguity ambiguous i nā hiʻohiʻona aʻe:

• ʻO kahi peni liʻiliʻi (ʻoi aku ma mua o 2 a 3 mau kenimika, a i ʻole 3/4 a i 1 1/4 iniha) e like me he clitoris hoʻonui ʻia (hoʻonui ʻia ka clitoris o kahi wahine hānau hou i ka wā hānau).
• Hiki paha i ka wehe urethral ma nā wahi āpau, ma luna, a ma lalo paha o ka peni. Hiki ke loaʻa ma lalo o ka perineum, e hōʻike hou ana i ka pēpē he wahine.
• Aia paha he scrotum liʻiliʻi i hoʻokaʻawale ʻia a like ke ʻano me ka labia.
• Kū pinepine ʻia nā testicle undescended me ka genigu ambiguous.

Me kekahi mau hoʻokoe, ʻaʻohe mea hoʻoweliweli pinepine i ka genitalia ambiguous. Eia nō naʻe, hiki ke hana i nā pilikia kaiaulu no ke keiki a me ka ʻohana. No kēia kumu, kahi hui o nā loea loea, e like me neonatologists, geneticists, endocrinologists, a me psychiatrists a i ʻole nā ​​limahana kaiaulu e komo i ka mālama ʻana o ke keiki.

Nā kumu no ka genigu ambiguous nā:

• Pseudohermaphroditism. ʻO ka genitalia kekahi o nā kāne, akā aia kekahi mau ʻano o ke ʻano o ka wahine ʻē aʻe.
• Hermaphroditism ʻoiaʻiʻo. He kūlana kakaʻikahi loa kēia, kahi o nā kiko o nā ovaries a me nā testicle ʻelua. Loaʻa paha i ke keiki nā ʻāpana o nā kāne a me nā wahine.
• Hoʻohui gonadal dysgenesis (MGD). He kūlana intersex kēia, a aia kekahi mau hale kāne (gonad, testis), a me kahi kōpū, ʻūpā, a me nā paipu fallopian.
• ʻO hyperplasia adrenal congenital. He ʻano ko kēia ʻano, akā ʻo ke ʻano maʻamau ka mea e ʻikea ai ke kāne wahine. Hōʻike nā mokuʻāina he nui i kēia kūlana hoʻoweliweli i ke ola ma nā hōʻike loiloi hānau hānau hou.
• Nā hana kūpono ʻole Chromosomal, me Klinefelter Syndrome (XXY) a me Turner Syndrome (XO).
• Inā lawe ka makuahine i kekahi mau lāʻau (e like me androgenic steroid), hiki i ka wahine wahine ke nānā aku he kāne hou aku.
• ʻO ka hana ʻole o kekahi mau hormones hiki ke hoʻomohala i ka embryo me kahi ʻano wahine wahine, me ka nānā ʻole i ka moekolohe.
• Ka nele o nā testosterone cellular receptors. ʻOiai ʻo ke kino e hana i nā hormoni e pono ai e hoʻomohala i ke kāne kino, ʻaʻole hiki i ke kino ke pane i kēlā mau hormona. Hana kēia i kahi ʻano kino wahine, ʻoiai inā he kāne ke kāne.

Ma muli o ka hopena o ka hopena o ke kaiaulu a me ka noʻonoʻo o kēia ʻano, pono i nā mākua e hoʻoholo e pili ana i ka hānai ʻana i ke keiki ma ke ʻano he kāne a wahine paha ma hope o ka ʻike ʻana. ʻOi aku ka maikaʻi inā hoʻoholo ʻia i loko o nā lā mua o ke ola. Eia nō naʻe, he hoʻoholo koʻikoʻi kēia, no laila ʻaʻole pono nā mākua e wikiwiki.

Kāhea aku i kāu kahu mālama ola inā hopohopo ʻoe e pili ana i ka helehelena o ka genitalia kūwaho o kāu keiki, a i ʻole kāu pēpē.

• Lawe ʻia ma mua o 2 mau pule e kiʻi hou i kāna kaumaha hānau
• He luaʻi
• Nānā maloʻo (maloʻo i loko o ka waha, ʻaʻohe waimaka ke uē, ma lalo o 4 mau pulu pulu no 24 mau hola, nānā nā maka i ke komo)
• Ua hōʻemi i ka makemake
• Loaʻa iā ia nā kilokilo polū (nā wā pōkole ke kahe o ka kahe o ke koko i loko o nā akemāmā)
• He pilikia i ka hanu ʻana

Hiki i kēia mau mea ke hōʻailona o ka hyperplasia adrenal congenital.

Hiki ke ʻike ʻia ke genigu ambiguous i ka wā o ka hoʻokolohua pēpē maikaʻi mua.

E hana ana ka mea hāʻawi i kahi hoʻokolohua kino e hōʻike i nā genital ʻaʻole "kāne kāne" a "wahine wahine" paha, akā ma kahi ma waena.

E nīnau ka mea hāʻawi i nā nīnau mōʻaukala olakino e hoʻomaopopo i nā maʻi chromosomal āpau. Hiki i nā nīnau ke komo pū me:

• Aia kekahi moʻolelo ʻohana o ka hānau hānau ʻole?
• Aia kekahi moʻolelo ʻohana o ka hānau hānau?
• Aia kekahi moʻolelo ʻohana o ka make mua?
• Ua loaʻa paha i nā lālā o ka ʻohana he pēpē i make i nā mau pule mua o ke ola a i ʻole he genigu wahine kānalua?
• Aia kekahi moʻolelo ʻohana o kekahi o nā maʻi i kumu i ka genigu ambiguous?
• He aha nā lāʻau a ka makuahine i lawe ai ma mua a i ʻole i ka wā hāpai (ʻoi loa ʻo steroid)?
• He aha nā hōʻailona ʻē aʻe e kū nei?

Hiki i ka hoʻāʻo genetic ke hoʻoholo inā he kāne a wahine paha ke keiki. ʻO ka manawa pinepine hiki ke hemo i kahi hāpana o nā hunaola mai loko mai o nā pāpālina o ke keiki no kēia hoʻāʻo. ʻO ka nānā ʻana i kēia mau hunaola ka lawa pinepine e hoʻoholo ai i ka moekolohe kāne o ka pēpē. ʻO ka hōʻiliʻili ʻo Chromosomal kahi hōʻoia nui e pono ai i nā hihia kānalua.

Endoscopy, ʻōpū x-ray, ʻōpū a i ʻole pelvic ultrasound, a pono paha e like me nā hoʻokolohua e hoʻoholo ai i ke alo a i ʻole ka loaʻa ʻole o nā genital o loko (e like me nā hōʻike undescended).

Hiki i nā hoʻokolohua Laboratory ke kōkua i ka hoʻoholo ʻana pehea e holo pono ai nā mea hānau. Hiki i kēia ke hoʻopili i nā hoʻokolohua no nā adrenal a me nā gonadal steroid.

I kekahi mau hihia, pono ka laparoscopy, laparotomy exploratory, a i ʻole biopsy o nā gonad e hōʻoia i nā maʻi e hiki ai ke hoʻohālua i ka genitalia.

Kaukaʻi ʻia i ke kumu, hoʻohana ʻia ke kaha ʻana, ka hoʻololi ʻana i ka hormone, a i ʻole nā ​​ʻano lāʻau ʻē aʻe e mālama i nā kūlana i hiki ke kumu i ka geniguita kānalua.

I kekahi manawa, pono i nā mākua e koho inā hānai i ke keiki kāne a wahine paha (me ka nānā ʻole i nā chromosome a ke keiki). Hiki i kēia koho ke hoʻololi i ka pilikanaka a me ka noʻonoʻo i ke keiki, no laila ke paipai pinepine ʻia ka ʻōlelo aʻoaʻo.

Kaha: ʻOi aku ka maʻalahi o ka ʻenehana i ka mālama ʻana (a no laila hānai) i ke keiki me he wahine lā. ʻO kēia no ka mea ʻoi aku ka maʻalahi o ka mea kōkō e hana i ka wahine wahine ma mua o ka hana ʻana i ke kāne kāne. No laila, i kekahi manawa paipai ʻia kēia inā kāne kāne genetically. Eia nō naʻe, he hoʻoholo paʻakikī kēia. Pono ʻoe e kūkākūkā me kāu ʻohana, ka mea hāʻawi i kāu keiki, ke kaukōkō, ka endocrinologist o kāu keiki, a me nā lālā o ka hui mālama ola.

Nā genital - kānalua

• Nā maʻi ulu o ka ʻōpū a me ka pūpū

ʻO Diamond DA, Yu RN. Nā maʻi o ka hoʻomohala moekolohe: etiology, loiloi, a me ka hoʻokele olakino. I: Wein AJ, Kavoussi LR, Partin AW, Peters CA, eds. Campbell-Walsh Urology. 11th hua. Piladelapia, PA: Elsevier; 2016: chap 150.

ʻO Rey RA, ʻo Josso N. Diagnosis a me ka mālama ʻana i nā maʻi o ka ulu moekolohe. I: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Makua a Pediatric. ʻEpekema 7 Piladelapia, PA: Elsevier Saunders; 2016: chap 119.

Keʻokeʻo PC. Nā maʻi o ka ulu moekolohe. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 25th hua. Piladelapia, PA: Elsevier Saunders; 2016: chap 233.

Keʻokeʻo PC. ʻO ka hyperplasia adrenal Congenital a me nā maʻi e pili ana. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 594.