Phenotypic variability in congenital lipoid adrenal hyperplasia.
作者信息
Joshi Rajesh, Das Dhanjit, Tamhankar Parag, Shaikh Shakil
机构信息
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.
出版信息
Indian Pediatr. 2014 May;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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