al-Jurayyan N A
Department of Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Acta Paediatr. 1995 Jun;84(6):651-4. doi: 10.1111/j.1651-2227.1995.tb13719.x.
Over a 10-year-period, 78 Saudi children with congenital adrenal hyperplasia were seen at King Khalid University Hospital, Riyadh. Of these, 20 (25.6%) patients from 11 families were 11 beta-hydroxylase deficient. Their mean age was 2.8 years (range 0-10 years). The clinical expression was somewhat severe; pseudoprecocious puberty in males and variable degrees of virilization in females which led to wrong sex assignment in seven (58.3%). Three patients had neonatal salt-wasting before treatment. Moderate to severe hypertension associated with hypokalaemia was present in another six. In four siblings hypertension persisted inspite of adequate hydrocortisone therapy. It is concluded that congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is relatively frequent among the Saudi Arabian population. In view of the severity of the clinical expression and complications, physicians should be aware of the disease and have a high index of suspicion in order to detect and treat such patients early enough to avoid or minimize the unwanted sequelae.
在10年期间，利雅得的哈立德国王大学医院诊治了78名患有先天性肾上腺皮质增生症的沙特儿童。其中，来自11个家庭的20名（25.6%）患者为11β-羟化酶缺乏症。他们的平均年龄为2.8岁（范围0至10岁）。临床表现较为严重；男性为假性性早熟，女性为不同程度的男性化，这导致7名（58.3%）患者性别错判。3名患者在治疗前有新生儿失盐情况。另外6名患者存在与低钾血症相关的中度至重度高血压。在4名同胞中，尽管给予了足够的氢化可的松治疗，高血压仍持续存在。结论是，11β-羟化酶缺乏所致的先天性肾上腺皮质增生症在沙特阿拉伯人群中相对常见。鉴于临床表现和并发症的严重性，医生应了解该疾病并保持高度怀疑指数，以便尽早发现并治疗此类患者，避免或尽量减少不良后果。
