Next Article in Journal
New Aspects of Sarcomas of Uterine Corpus—A Brief Narrative Review
Previous Article in Journal
Quality of Life among Pediatric Neurocognitive, Speech, and Psychomotor Rehabilitation Professionals during the COVID-19 Pandemic: A Longitudinal Study on an Italian Sample
Case Report

Congenital Adrenal Hyperplasia: Diagnostic Pitfalls in Prolonged Neonatal Jaundice

1
Department of Primary Care Medicine, Faculty of Medicine, Universiti Teknologi MARA, Selayang Campus, Jalan Selayang Prima 7, Batu Caves 68100, Selangor, Malaysia
2
Department of Paediatrics, Faculty of Medicine, Universiti Teknologi MARA, Sungai Buloh Campus, Sungai Buloh 47000, Selangor, Malaysia
3
Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM), Universiti Teknologi MARA, Sungai Buloh Campus, Sungai Buloh 47000, Selangor, Malaysia
*
Author to whom correspondence should be addressed.
Clin. Pract. 2021, 11(4), 870-877; https://doi.org/10.3390/clinpract11040102
Received: 12 September 2021 / Revised: 7 November 2021 / Accepted: 12 November 2021 / Published: 17 November 2021
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. View Full-Text
Keywords: congenital adrenal hyperplasia; prolonged jaundice; hyperbilirubinemia; hyponatremia congenital adrenal hyperplasia; prolonged jaundice; hyperbilirubinemia; hyponatremia
Show Figures

Figure 1

MDPI and ACS Style

Rosli, N.A.; Mazapuspavina, M.Y.; Mohd Nor, N.S. Congenital Adrenal Hyperplasia: Diagnostic Pitfalls in Prolonged Neonatal Jaundice. Clin. Pract. 2021, 11, 870-877. https://doi.org/10.3390/clinpract11040102

AMA Style

Rosli NA, Mazapuspavina MY, Mohd Nor NS. Congenital Adrenal Hyperplasia: Diagnostic Pitfalls in Prolonged Neonatal Jaundice. Clinics and Practice. 2021; 11(4):870-877. https://doi.org/10.3390/clinpract11040102

Chicago/Turabian Style

Rosli, Nur A., Md Y. Mazapuspavina, and Noor S. Mohd Nor 2021. "Congenital Adrenal Hyperplasia: Diagnostic Pitfalls in Prolonged Neonatal Jaundice" Clinics and Practice 11, no. 4: 870-877. https://doi.org/10.3390/clinpract11040102

Find Other Styles

Article Access Map by Country/Region

1
Back to TopTop