Phenotypic variability in congenital lipoid adrenal hyperplasia
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Published on: March 23, 2022
Rajesh Joshi1, Dhanjit Das, Parag Tamhankar
1Department 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.
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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