Case Report: Neonatal Presentation of Congenital Adrenal Hyperplasia Accompanied by Isolated Cleft Palate

Abstract Introduction: Congenital adrenal hyperplasia (CAH), particularly due to 21-hydroxylase deficiency, is an autosomal recessive disorder characterized by impaired cortisol synthesis, leading to severe clinical manifestations such as adrenal crises and atypical genitalia in 46,XX neonates. Isolated cleft palate (ICP) is a congenital anomaly resulting from incomplete palatal shelf fusion and is influenced by genetic and environmental factors. Concurrent presentations of CAH and ICP are extremely rare. Case Presentation: Here, we report the case of a 19-day-old neonate born to Nigerian parents who presented with ambiguous genitalia and cleft palate. Initial evaluations revealed hyperkalaemia, hyponatremia, and metabolic acidosis, indicative of salt-wasting CAH. Genitourinary examination revealed partial labioscrotal fold fusion, clitoromegaly, and the absence of vaginal opening. Despite financial limitations restricting comprehensive diagnostic tests, the diagnosis of CAH was supported by clinical findings and initial laboratory results. The neonate received appropriate treatment for hyperkalaemia and hormone deficiencies. Multidisciplinary consultations were sought for the management of both CAH and ICP. Conclusion: This case highlights the rare co-occurrence of CAH and ICP, emphasizing the importance of a multidisciplinary approach for effective management. This underscores the necessity for early diagnosis and integrated care to improve patient outcomes. Further research is warranted to explore potential associations and enhance the clinical understanding of such complex congenital anomalies.