Article
Phenotypic variability in congenital lipoid adrenal hyperplasia.
Indian pediatrics - 1 May 2014
Joshi Rajesh, Das Dhanjit, Tamhankar Parag, Shaikh Shakil
Abstract excerpt
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...
Topics
- Adrenal Hyperplasia, Congenital
- Disorder of Sex Development, 46,XY
- Female
- Humans
- Infant
- Male
- Phenotype
- Phosphoproteins
- Steroidogenic Acute Regulatory Protein