Neonatal Meningitis Together With 11-Beta Hydroxylase Enzyme Deficiency: A Case Report

A. Çakmak, A. Ataş, I. Altuntaş, H. Karazeybek
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Abstract

Congenital adrenal hyperplasia is a disease which results in autosomal recessive transition with deficiency of the necessary enzymes for cortisole synthesis from cholesterol. The most frequently deficient enzyme is 21-hydroxylase and the second most common is 11-beta hydroxylase. A deficiency of 11-beta hydroxylase is seen in 5 -8% of congenital adrenal hyperplasia cases. An increase in androgyny develops depending on the clinical findings. Neonatal meningitis is an important central nervous system infection because of morbidity and mortality. Of all age groups, meningitis is most commonly seen in neonates. This study presents the case of a 20-day old baby who presented at our emergency department with neonatal sepsis and meningitis, then on physical examination was seen to have ambiguous genitalia and investigative tests resulted in a diagnosis of 11-beta hydroxylase deficiency.
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新生儿脑膜炎合并11- β羟化酶缺乏1例报告
先天性肾上腺增生症是一种常染色体隐性遗传的疾病,缺乏从胆固醇合成皮质醇所需的酶。最常见的缺乏酶是21-羟化酶,第二常见的是11-羟化酶。在5 -8%的先天性肾上腺增生病例中可见11- β羟化酶缺乏。雌雄同体的增加取决于临床表现。新生儿脑膜炎是一种重要的中枢神经系统感染,由于发病率和死亡率。在所有年龄组中,脑膜炎最常见于新生儿。本研究报告一例20天大的婴儿因新生儿败血症和脑膜炎来到我们的急诊科,然后在体格检查中发现生殖器模糊,调查检查结果诊断为11- β羟化酶缺乏症。
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