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Congenital Adrenal Hyperplasia: Diagnostic Pitfalls in Prolonged Neonatal Jaundice
- Source :
- Clinics and Practice, Vol 11, Iss 102, Pp 870-877 (2021), Clinics and Practice
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
Abstract
- 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.
- Subjects :
- Medicine (General)
congenital, hereditary, and neonatal diseases and abnormalities
Pediatrics
medicine.medical_specialty
hyperbilirubinemia
hyponatremia
endocrine system diseases
Referral
Case Report
urologic and male genital diseases
prolonged jaundice
R5-920
congenital adrenal hyperplasia
Medicine
Congenital adrenal hyperplasia
Prolonged neonatal jaundice
business.industry
Primary care physician
Genetic disorder
nutritional and metabolic diseases
General Medicine
Jaundice
medicine.disease
Pathophysiology
medicine.symptom
business
Hyponatremia
Subjects
Details
- ISSN :
- 20397283
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Clinics and Practice
- Accession number :
- edsair.doi.dedup.....1b6ba7b31bb96cc6776868535218b0bf