Rosli Nur Athirah, Mazapuspavina Md Yasin, Mohd Nor Noor Shafina
Department of Primary Care Medicine, Faculty of Medicine, Universiti Teknologi MARA, Selayang Campus, Jalan Selayang Prima 7, Batu Caves 68100, Selangor, Malaysia.
Department of Paediatrics, Faculty of Medicine, Universiti Teknologi MARA, Sungai Buloh Campus, Sungai Buloh 47000, Selangor, Malaysia.
Clin Pract. 2021 Nov 17;11(4):870-877. doi: 10.3390/clinpract11040102.
Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that leads to cortisol deficiency. However, prolonged neonatal jaundice is a rare presentation of CAH. The pathophysiology of hyperbilirubinemia in CAH is still ill-defined. Plausible causes are related to the synthesis of bile, maturity of the liver and adrenal function. This case reported a neonate who presented with severe prolonged jaundice that lasted for more than a month. A short Synacthen test confirmed diagnosis of CAH. He was started on steroid replacement. He had regular follow-up under paediatric endocrinologist and primary care physician for long-term monitoring and overall health care. This case demonstrates the importance of recognizing the clinical and biochemical features of CAH for early detection and referral. Long-term follow-up and monitoring is necessary due to the risk of complications and side effects of medications. This is the first case of CAH presented with persistent hyperbilirubinemia to be reported from Malaysia. The case describes the difficult workup that has been encountered in the patient's care and management.
先天性肾上腺增生症（CAH）是一种导致皮质醇缺乏的遗传性疾病。然而，新生儿期黄疸延长是CAH的一种罕见表现。CAH中高胆红素血症的病理生理学仍不明确。可能的原因与胆汁合成、肝脏成熟度和肾上腺功能有关。本病例报告了一名出现严重黄疸延长且持续超过一个月的新生儿。短程促肾上腺皮质激素试验确诊为CAH。他开始接受类固醇替代治疗。他在儿科内分泌学家和初级保健医生的定期随访下进行长期监测和全面医疗保健。本病例表明认识CAH的临床和生化特征对于早期检测和转诊的重要性。由于存在并发症和药物副作用风险，长期随访和监测是必要的。这是马来西亚报告的首例表现为持续性高胆红素血症的CAH病例。该病例描述了在患者护理和管理中遇到的艰难检查过程。
