Background: Congenital lipoid adrenal hyperplasia presents with adrenal insufficiency and sex reversal in 46XY genetic males.
Case characteristics: Two patients (46 XY karyotype), one having ambiguous genitalia and other having female external genitalia, presented with adrenal crisis at 6 months and 4 weeks of age, respectively.
Observation: Steroidogenic Acute Regulatory Protein gene sequencing revealed homozygous mutations in both patients.
Outcome: Treatment with hydrocortisone and fludrocortisone resulted in marked improvement.
Message: Congenital lipoid adrenal hyperplasia should be considered in infants having female or ambiguous genitalia, and presenting with adrenal insufficiency.