11β 羟化酶缺乏症合并甲状腺功能减退症患儿 1 例报告
11β Hydroxylase Deficiency in a Child with Hypothyroidism: A Case Report.
机构信息
Department of Paediatrics, B.P. Koirala Institute of Health Sciences, Dharan, Sunsari, Nepal.
B.P. Koirala Institute of Health Sciences, Dharan, Sunsari, Nepal.
出版信息
JNMA J Nepal Med Assoc. 2023 Dec 1;61(268):956-957. doi: 10.31729/jnma.8378.
UNLABELLED
Congenital adrenal hyperplasia occurs due to enzymatic defects in the adrenocortical steroidogenesis. 11β hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia which presents with hypertension and features of androgen excess. Hypertension has also been found to cause end-organ damage in children with 11β hydroxylase deficiency. We report a case of a 10-year-old male child with hypothyroidism under thyroid replacement therapy, presenting with features of severe hypertension and androgen excess, later on, diagnosed as congenital adrenal hyperplasia due to 11β hydroxylase deficiency.
KEYWORDS
case reports; congenital adrenal hyperplasia; hypertension; hypothyroidism.
未注明
先天性肾上腺皮质增生是由于肾上腺皮质甾体生成酶的缺陷所致。11β-羟化酶缺陷是先天性肾上腺皮质增生的第二大常见原因，其特征为高血压和雄激素过多。高血压也已被发现可导致 11β-羟化酶缺陷的儿童发生靶器官损害。我们报告了 1 例 10 岁男性儿童，在甲状腺替代治疗下患有甲状腺功能减退症，表现为严重高血压和雄激素过多的特征，后来被诊断为 11β-羟化酶缺陷所致的先天性肾上腺皮质增生。
关键词
病例报告；先天性肾上腺皮质增生；高血压；甲状腺功能减退症。
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