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Case Reports
Journal Article
Phenotypic variability in congenital lipoid adrenal hyperplasia.
Indian Pediatrics 2014 May
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.
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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