Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Primary adrenal insufficiency is a critical condition with diverse etiologies.
• Lipoid congenital adrenal hyperplasia (LCAH), caused by StAR gene mutations, typically manifests in infancy with severe adrenal insufficiency.
• A less common non-classical form of LCAH can present later in life, with approximately 30 cases reported.

Observation:

• A 4-year-old Indian girl presented with hypoglycemic seizures.
• Genetic analysis revealed a homozygous R188C mutation in the StAR gene.
• This confirmed a diagnosis of non-classical lipoid congenital adrenal hyperplasia.

Findings:

• Steroidogenic acute regulatory protein (StAR) gene mutations exhibit varied clinical presentations.
• Non-classical LCAH may be underdiagnosed due to its diverse clinical manifestations.
• The homozygous R188C mutation in the StAR gene was identified in the patient.

Implications:

• Genetic diagnosis of StAR mutations is crucial for appropriate patient management.
• Early identification facilitates timely treatment and monitoring of adrenal insufficiency.
• Genetic insights are vital for assessing and managing reproductive function in affected individuals.