Amenore Primer et causa Hiperplasia Adrenal Kongenital Non Klasik

Maya Devi Arifiandi, I Wayan Arsana Wiyasa
  JOIM, pp. 30-36  

Abstract


ABSTRACT

Primary amenorrhea is menarche delayed at 14 of age without secondary sex or absent of menstruation at 16 of age with appearance of normal secondary sex. Congenital Adrenal Hyperplasia (CAH) is one of endocrine disturbance can cause primary amenorrhea. Three CAH phenotypes are classical salt wasting and classical simple virilizing, also non classical CAH with late onset in symptoms and diagnosis which unknown in prenatal time. Non classical CAH caused by P450C21(21-hydroxilase) deficiency, where autosomal recessive cause by mutation of gene CYP21A2. A case 16 years old female patient came with absent of menstruation and mass near vagina as penis like. Number of screening and  examination, diagnosis for this patient is Non Classical Congenital Adrenal Hyperplasia.      

           
Keywords : primary amenorrhea, non classical congenital adrenal hyperplasia  

 

ABSTRAK

Amenore primer adalah tertundanya menarke pada usia 14 tahun tanpa disertai seks sekunder atau tidak adanya menstruasi pada usia 16 tahun dengan adanya pertumbuhan normal seks sekunder. Hiperplasia Adrenal Kongenital (HAK) merupakan salah satu gangguan endokrin yang dapat menyebabkan terjadinya amenore primer. Terdapat tiga fenotip HAK, HAK tipe klasik yaitu  classical salt wasting dan classical simple virilizing sejak lahir serta HAK non klasik dengan late-onset baik gejala maupun diagnosisnya dimana saat prenatal tidak diketahui. HAK non klasik disebabkan karena adanya defisiensi  enzim P450C21 (21-hidroksilase) yang merupakan kelainan autosomal resesif yang diakibatkan oleh mutasi gen CYP21A2. Sebuah kasus seorang pasien wanita lajang usia 16 tahun dengan keluhan belum menstruasi sama sekali dan memiliki benjolan di dekat vagina menyerupai penis. Dilakukan serangkaian pemeriksaan, diagnosis pada pasien ini adalah Hiperplasia Kongenital Adrenal Kongenital (HAK) non klasik.    

 

Kata kunci: amenore primer, hiperplasia adrenal kongenital (HAK) non klasik

 


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References


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