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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...

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PMID: 24953586

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Source receipt: pubmed, retrieved 7 Sept 2026.

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