Phenotypic Variability in Congenital Lipoid Adrenal Hyperplasia.
Indian Pediatr
;
2014 May; 51(5): 399-400
Article
Dans Anglais
| IMSEAR
| ID: sea-170621
ABSTRACT
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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
langue:
Anglais
Texte intégral:
Indian Pediatr
Année:
2014
Type:
Article
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