title: Phenotypic variability in congenital lipoid adrenal hyperplasia.
abstract: BACKGROUND
  Congenital lipoid adrenal hyperplasia presents with adrenal insufficiency and sex reversal in 46XY genetic males.
  
  
  METHODS
  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.
  
  
  METHODS
  Steroidogenic Acute Regulatory Protein gene sequencing revealed homozygous mutations in both patients.
  
  
  RESULTS
  Treatment with hydrocortisone and fludrocortisone resulted in marked improvement.
  
  
  CONCLUSIONS
  Congenital lipoid adrenal hyperplasia should be considered in infants having female or ambiguous genitalia, and presenting with adrenal insufficiency.
authors: Department of Pediatrics, BJ Wadia hospital for Children, Mumbai and *Genetic Research Centre, NIRRH, Parel, Mumbai, India. Correspondence to: Dr Rajesh Joshi, D/3, Om Parshvanath Apartments, Saibaba Nagar, Borivali (West), Mumbai 400 092, India. rrj23@rediffmail.com.
authors: Rajesh
authors: R
authors: Joshi
authors: Dhanjit
authors: D
authors: Das
authors: Parag
authors: P
authors: Tamhankar
authors: Shakil
authors: S
authors: Shaikh
mesh_terms: D000312:Adrenal Hyperplasia, Congenital; D058490:Disorder of Sex Development, 46,XY; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics; D000098682:Steroidogenic Acute Regulatory Protein
chemical_list: D010750:Phosphoproteins; D000098682:Steroidogenic Acute Regulatory Protein