Neonatal presentation of congenital adrenal hyperplasia accompanied by isolated cleft palate: case report

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive disorder marked by cortisol deficiency, it often presents with adrenal crises and ambiguous genitalia in 46, XX neonates. Isolated cleft palate (ICP) is a congenital defect resulting from incomplete palatal fusion. The co-occurrence of CAH and ICP is extremely rare. We report a 19-day-old Nigerian neonate with ambiguous genitalia and cleft palate. Laboratory findings revealed hyperkalaemia, hyponatremia, and metabolic acidosis, suggestive of salt-wasting CAH. Physical examination showed clitoromegaly, fused labioscrotal folds, and absent vaginal opening. Despite limited diagnostic resources, a clinical diagnosis of CAH was made, and hormone and electrolyte therapy were initiated. Multidisciplinary care was provided for both CAH and ICP. This case highlights the importance of coordinated management in rare congenital presentations and calls for further research into potential links between these anomalies.