Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
JNMA J Nepal Med Assoc. 2020 Jan;58(221):56-58. doi: 10.31729/jnma.4811.
Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical. The severe form also called Classical Congenital Adrenal Hyperplasia is usually detected after birth to infant period. If Congenital Adrenal Hyperplasia is not diagnosed and treated early, neonates are susceptible to sudden death in the early weeks of life. We report a case of thirty-five days male with a salt-wasting variant of congenital adrenal hyperplasia. The diagnosis was based on an elevated level of 17-hydroxyprogesterone. He was managed and life long oral Prednisolone and Fludrocortisone were prescribed. Keywords: 21-hydroxylase, congenital adrenal hyperplasia, case report.
先天性肾上腺皮质增生症是一组常染色体隐性遗传疾病，由于类固醇生成过程中所涉及的酶缺乏所致。最常见的形式是 21-羟化酶缺乏症，可分为经典型或非经典型。严重形式也称为经典先天性肾上腺皮质增生症，通常在出生后婴儿期被发现。如果先天性肾上腺皮质增生症不能早期诊断和治疗，新生儿在生命的前几周易发生猝死。我们报告了一例 35 天男性患有盐耗竭型先天性肾上腺皮质增生症。诊断依据是 17-羟孕酮水平升高。他接受了治疗，终身口服泼尼松龙和氟氢可的松。关键词：21-羟化酶，先天性肾上腺皮质增生症，病例报告。
