Clinical and genetic insights into congenital lipoid adrenal hyperplasia: a case series from a tertiary care center in North India.

OBJECTIVES

To describe the clinical and genetic profiles of eight patients diagnosed with Congenital Lipoid Adrenal Hyperplasia (CLAH) at a tertiary center in North India.

METHODS

A retrospective analysis of eight children with genetically confirmed CLAH diagnosed between January 2020 and June 2024 was conducted. Data on clinical presentation, anthropometry, biochemical parameters, genetic mutations, and treatment were reviewed.

RESULTS

Seven patients exhibited the nonclassical phenotype, while one had the classical form. The median (IQR) age at symptom onset, presentation, and diagnosis was 2.50 (1.25-3.82) years, 5.40 (1.70-8.37) years, and 6.31 (4.20-9.12) years, respectively. Skin hyperpigmentation was observed in 100 % of patients, failure to thrive in 75 %, dehydration in 50 %, seizures in 62.5 %, and hypotension in 25 %. Biochemical abnormalities included hyponatremia and hypoglycemia in 62.5 % each, and hyperkalemia in 37.5 % of cases. Genetic analysis identified missense variants in the STAR gene, with six patients carrying the p.Arg188Cys variant, suggesting a founder effect. All patients received glucocorticoid and mineralocorticoid replacement. None of the patients had genital ambiguity or hypogonadism.

CONCLUSIONS

Nonclassical CLAH appears to be more prevalent in the Indian population than previously recognized. Genetic testing facilitates accurate diagnosis and management in resource-limited settings. Lifelong follow-up is essential for monitoring pubertal and gonadal function.