Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

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• 作者：Krupali Bulsari ; Henrik Falhammar
• 关键词：CYP11B1 ; Diagnosis ; Management ; Complications
• 刊名：Endocrine
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：55
• 期：1
• 页码：19-36
• 全文大小：
• 刊物主题：Endocrinology; Diabetes; Internal Medicine; Science, Humanities and Social Sciences, multidisciplinary;
• 出版者：Springer US
• ISSN：1559-0100
• 卷排序：55

文摘

Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens. More than 100 mutations in CYP11B1 gene have been reported to date. The level of in-vivo activity of CYP11B1 relates to the degree of severity of 11 beta-hydroxylase deficiency. Clinical management of 11 beta-hydroxylase deficiency can pose a challenge to maintain adequate glucocorticoid dosing to suppress adrenal androgen excess while avoiding glucocorticoid-induced side effects. The long-term outcomes of clinical and surgical management are not well studied. This review article aims to collate the current available data about 11 beta-hydroxylase deficiency and its management.