Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X

被引：0
|
作者：
Mary Matallana-Rhoades, Audrey [1 ,2 ]
David Corredor-Castro, Juan [1 ]
Javier Bonilla-Escobar, Francisco [3 ,4 ]
Valentina Mecias-Cruz, Bony [1 ]
Mejia de Beldjena, Liliana [5 ,6 ]
机构：
[1] Univ Valle, Cali, Colombia
[2] Hosp Univ Valle, Cali, Colombia
[3] Univ Valle, Inst Cisalva, Calle 4 34-00, Cali, Colombia
[4] Fdn SCISCO, Cali, Colombia
[5] Fdn Clin Valle Lili, Cali, Colombia
[6] Fdn Clin Infantil Club Noel, Cali, Colombia
来源：
COLOMBIA MEDICA | 2016年 / 47卷 / 03期
关键词：
Adrenal hyperplasia; congenital; hyperplasia adrenal glands; mutation; adrenocorticotropic hormone; virilism; 11-Beta-hydroxylase deficiency; CYP11B1;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Case Description: The phenotype of the deficiency of heterozygote 11-beta-hydroxylase composed of the Q356X and R384X mutations is described. Clinical Findings: Severe virilization, peripheral hypertension, and early puberty. Treatment and Outcome: Managed with hormone replacement therapy (corticosteroid) and antihypertensive therapy (beta-blocker), resulting in the control of physical changes and levels of arterial tension.
引用
收藏
页码：172 / 175
页数：4
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