Monday, July 31, 2006

Congenital Adrenal Hyperplasia

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Congenital Adrenal Hyperplasia (CAH)
Puisi ini terhasil lewat meneliti sebuah kes pesakit. -Dengan ingatan yang tidak berbelah bahagi terhadap saudara-saudara di Tebing Barat dan Gaza.

Kecelaruan ini mahu mereka bunuh
Dengan amarah yang terjaga
Lewat kegembiraan yang bercempera diusir kaget
Kerana lelaki ini bukanlah lelaki
Yang boleh dikhatankan.

Tahukah Tuhan?
Kami sudah jenuh sembilan bulan ini
Mengira saat-saat yang pergi
Dengan jari-jari basah kami.

Sewaktu lelaki yang bukan lelaki itu
Mengheret amarah mereka
Dengan senyuman atas izin Tuhan
Mereka dihurung pasrah
Dan mahu lupa
tentang kebanjiran steroid
tentang keliru adrenal cortex
tentang aldosterone
tentang cortisol
tentang androgen
atau clitoris yang membesar.

Tuhan, maaf kerana berdendam dengan Mu
Seketika tadi....

Hafeziftiqar
Hargrave-Andrew Library, 31 Julai 2006
3.30 pm, Monash Univeristy, Australia.

*lagi puisi-puisi penulis boleh didapati di http://www.esastera.com/


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Latar kes

Kelahiran seorang bayi sulung yang berjantina lelaki kepada pasangan Yahudi, Leah dan Joshua. Doktor yang menyambut kelahiran bayi tersebut mengesahkan bayi itu berjantina lelaki berdasarkan alat genetalia (alat kelamin) pada bayi tersebut. Pasangan tersebut menamakan bayi itu dengan nama Isaac dan merancang untuk mengkhatankan bayi itu mengikut tradisi Yahudi. Setelah dibawa pulang, bayi tersebut sering muntah, hilang berat badan dan kelihatan sakit. Bayi tersebut dibawa semula ke hospital dan pemeriksaan mendapati bayi tersebut sebenarnya perempuan.

Tanda dan simptom:
(1) Tanda-tanda hilang cecair badan secara berlebihan (dehydration)
- tekanan dan lekuk pada ubun-ubun hadapan (depression of anterior fontanelle).
- Mata yang lebam dan terbenam (sunken eyes)
- Degupan jantung laju (tachycardia)
- Kulit yang kering dan sejuk
- Hilang kesegahan kulit
(2) Ketidakpastian jantina (ambigous genetalia)
- pembesaran clitoris
- labioscrotal: labia majora (bibir faraj) yang berlipat seakan-akan scrotum

Diagnosis: Congenital Adrenal Hyperplasia

Struktur Kelenjar Adrenal (Anatomy of Adrenal Glands):
Kelenjar adrenal terletak di atas dua ginjal manusia. Kelenjar adrenal secara umum terbahagi kepada dua. Bahagian paling dalam dikenali sebagai adrenal medulla. Adrenal medulla secara umum merembeskan bahan neuroendocrinal yang dikelaskan dalam kumpulan biogenic amine iaitu norepinephrine dan epinephrine. Lapisan luar kelenjar adrenal dikenali sebagai medulla cortex. Berbeza dengan adrenal medulla, adrenal cortex merembeskan hormon dalam kelas steroid yang dikenali sebagai cortocosteroids atau nama lainnya corticoids. Medulla cortex sendiri terbahagi kepada 3 lapisan; lapisan paling luar: zona glomerulosa yang merembeskan aldosteron, lapisan tengah: zona fasciculata yang merembeskan glucocorticoid dan zona reticularis yang merembeskan androgen.

Physiology of Adrenal Gland.
Adrenal cortex melalui aldosterone bertanggungjawab untuk mengawal kandungan ion natrium (sodium) di dalam badan. Kehilangan natrium dikaitkan dengan kehilangan air yang menunjukkan tanda-tanda dehydration. Cortisol (glucocorticoids) bertanggungjawab untuk mengawal metabolisme lemak, gula dan protein dalam badan. Kekurangan glucocorticoids akan menyebabkan badan kekurangan glucosa yang penting untuk aktiviti sel. Androgen mengawal ekspresi genetalia. Rembesan 3 bahan utama ini dikawal oleh bahagian otak yang dikenali sebagai hypothalamus dan kelenjar pituitari melalui hormon ACTH atau corticotropin stimulating hormone.

Pathology of Congenital Adrenal Hyperplasia
Apa yang terjadi dalam kes Isaac, adrenal cortex gagal untuk menghasilkan 2 steroid penting iaitu aldosterone dan cortisol. Ini berikutan kegagalan sejenis enzyme iaitu p450c21. Apa yang terjadi dalam kes ini, steroid yang sepatutnya mengikuti jalur penghasilan aldosterone dan cortisol kesemuanya dibekalkan secara berlebihan kepada jalur penghasilan androgen menyebabkan androgen dihasilkan secara berlebihan. Ini disumbangkan lagi dengan lebihan rembesan ACTH yang tidak terhenti disebabkan tidak menerima isyarat daripada cortisol dan aldosterone. Maka androgen terus dihasilkan walau pun sedia berlebihan. Dalam perkembangan jantina bayi di peringkat kandungan, akan terdapat 2 duktus yang berkembang secara bersebelahan dikenali sebagai mesonephric duct (Wolffian duct) dan paramesonephric duct (Mullerian duct). Untuk lelaki, mesonephric duct akan berkembang dan paramesonephric duct akan membantut. Perkembangan mesonephric duct adalah disebabkan wujudnya androgen. Ini bertentangan dengan perkembangan paramesonephric duct. Paramesonephric duct akan berkembangan dengan ketidakhadiran androgen. Dalam kes congenital adrenal hyperplasia, androgen yang terhasil disebabkan kegagalan enzyme p450c21 menyebabkan seorang bayi yang mempunyai organ dalaman perempuan memiliki organ luaran seperti lelaki akibat kesan androgen terhadap pembesaran clitoris dan pelipatan labia majora persis scrotum.

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Anonymous Anonymous said...

Salam alaik. kiranya sudah lama x menjenguk blog ni. x tau la tuannya pun masih tgok2 lgi x. apepun, juz nak ckap, TENGS 4 DA GREAT INFO. dlu masa kenal blog ni masih kanak2 kecil yg hanya reti membaca dan x reti utk mencerna.

skrg bila baca, bru faham. All da bez in life, akh Hafez Iftiqar. :)

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