Manzoor Nida, Minhaj Areeba, Akmal Manahil
Pediatrics, Civil Hospital Karachi, Karachi, PAK.
Internal Medicine, Dow University of Health Sciences, Karachi, PAK.
Cureus. 2019 May 24;11(5):e4749. doi: 10.7759/cureus.4749.
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive inherited disorders that arise due to defects in one of the enzymes of steroidogenesis pathway in the adrenal glands. Ninety-five percent of the cases occur due to deficiency in 21-hydroxylase (21-OH). Clinically, CAH due to 21-OH deficiency presents in two distinct forms, classic CAH and non-classic CAH. Females with classical forms present with genial ambiguity while the presentation in males is more subtle with severe electrolyte disturbances being the initial manifestation in many cases. Arrhythmias are a rare manifestation of CAH. We report the case of an 18-day-old male child who presented with pulseless ventricular tachycardia and was later diagnosed with congenital adrenal hyperplasia based on the laboratory findings of elevated 17-hydroxyprogesterone (17-OHP) levels. Our case reveals that fatal arrhythmias such as a pulseless ventricular tachycardia can be the primary manifestation of the adrenal insufficiency of CAH even in the absence of any physical findings and hence clinicians should always maintain a strong suspicion for CAH in any child presenting with unexplained arrhythmia. Furthermore, this case also highlights the need for CAH screening in neonates so that the appropriate hormone replacement can be initiated before the development of life-threatening adrenal crisis.
先天性肾上腺皮质增生症（CAH）是一组常染色体隐性遗传性疾病，由肾上腺类固醇生成途径中一种酶的缺陷引起。95%的病例是由于21-羟化酶（21-OH）缺乏所致。临床上，21-OH缺乏引起的CAH有两种不同形式，典型CAH和非典型CAH。典型形式的女性表现为生殖器模糊，而男性的表现则较为隐匿，在许多情况下，严重的电解质紊乱是最初表现。心律失常是CAH的罕见表现。我们报告了一例18日龄男童，他表现为无脉性室性心动过速，后来根据17-羟孕酮（17-OHP）水平升高的实验室检查结果被诊断为先天性肾上腺皮质增生症。我们的病例显示，即使没有任何体格检查发现，致命性心律失常如无脉性室性心动过速也可能是CAH肾上腺功能不全的主要表现，因此临床医生对于任何出现不明原因心律失常的儿童都应始终高度怀疑CAH。此外，该病例还凸显了对新生儿进行CAH筛查的必要性，以便在危及生命的肾上腺危象发生之前开始适当的激素替代治疗。
