Non Classic - Congenital Adrenal Hyperplasia: Suatu Kasus Langka
DOI:
https://doi.org/10.33854/heme.v7i1.1643Keywords:
klitoromegali, hirsutisme, amenorea primer, non classic- congenital adrenal hyperplasiaAbstract
Congenital Adrenal Hyperplasia (CAH) adalah kelainan autosomal resesif yang disebabkan defek steroidogenesis. Salah satu tipe CAH adalah defisiensi 21-hydroxylase yang terdiri dari sub tipe classic dan non-classic. Penegakan diagnosis dan penatalaksanaan CAH merupakan suatu tantangan dikarenakan langkanya kasus dan manifestasi klinis yang bervariasi, tergantung pada jenis dan tingkat keparahan defisiensi enzim. Telah dilaporkan suatu kasus yang langka berupa klitoromegali dengan hirsutisme dan amenorea primer, yang merupakan suatu non classic - congenital adrenal hyperplasia (NC-CAH). Penegakan diagnosis NC-CAH pada kasus ini didapatkan dari gambaran virilisasi pada wanita dewasa berupa klitoromegali dan hirsutisme yang disertai amenorea primer dengan kadar kortisol serum dan elektrolit yang normal. Penelusuran riwayat keluarga dan pencitraan membantu penegakan diagnosis, namun pemeriksaan 17-Hydroxyprogesterone tetap disarankan untuk konfirmasi diagnosis dan pemantauan terapi.References
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