Phenotypic variability in congenital lipoid adrenal hyperplasia

Rajesh Joshi, Dhanjit Das, Parag Tamhankar, Shakil Shaikh
Indian Pediatrics 2014, 51 (5): 399-400

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.

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