沙特阿拉伯一家转诊医院的先天性肾上腺皮质增生症：流行病学、模式及临床表现

Congenital adrenal hyperplasia in a referral hospital in Saudi Arabia: Epidemiology, pattern and clinical presentation.

作者信息

Al-Jurayyan N A, Al-Herbish A S, Abo Bakr A M, Al-Rabeeah A A, Al-Samarrai A I, Jawad A J, Patel P J, Abdullah M A

机构信息

Division of Pediatric Endocrinology, Division of Pediatric Surgery, Department of Radiology, College of Medicine, King Saud University, Riyadh, and Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.

出版信息

Ann Saudi Med. 1995 Sep;15(5):447-50. doi: 10.5144/0256-4947.1995.447.

DOI:10.5144/0256-4947.1995.447

PMID:17590636

Abstract

Eighty-two children (30 males and 52 females) with congenital adrenal hyperplasia (CAH) were seen at King Khalid University Hospital (KKUH) over a 10-year period. Of these, 74 (90.2%) were Saudis and eight (9.8%) non-Saudis. Fifty-nine (72%) patients were 21-hydroxylase deficient. Of these, 56 (95%) had variable degrees of salt depletion. Nineteen (23.2%) patients had a deficiency of 11-ss-hydroxylase enzyme and four (4.8%) showed deficiency of 3-ss-hydroxysteroid dehydrogenase. The consanguinity rate was high (71.2%) and positive family history was documented in 45.8%. Thirty-nine infants deaths occurred within 25 families. The diagnosis was often delayed. Of the 52 females, 27 (52%) were initially assigned male sex. These results indicate the importance of physicians' awareness and the need for a neonatal screening program for early detection and appropriate management.

摘要

在10年期间，82名患有先天性肾上腺增生症（CAH）的儿童（30名男性和52名女性）在哈立德国王大学医院（KKUH）接受诊治。其中，74名（90.2%）为沙特人，8名（9.8%）为非沙特人。59名（72%）患者存在21-羟化酶缺乏。其中，56名（95%）有不同程度的盐耗竭。19名（23.2%）患者存在11-β-羟化酶缺乏，4名（4.8%）表现为3-β-羟类固醇脱氢酶缺乏。近亲结婚率很高（71.2%），45.8%有阳性家族史记录。25个家庭中有39名婴儿死亡。诊断往往延迟。在52名女性中，27名（52%）最初被指定为男性性别。这些结果表明医生提高认识的重要性以及开展新生儿筛查项目以进行早期检测和适当管理的必要性。