Clinical and genetic insights into congenital lipoid adrenal hyperplasia: a case series from a tertiary care center in North India
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Arun George
,
Anju Bala
Abstract
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.
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Research ethics: The study was approved by the Institute’s Ethics Committee (IEC-INT/2024/Study-2451).
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Informed consent: Waiver of consent was obtained by the Institute’s Ethics Committee.
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Author contributions: A.G. and A.R. were primary investigators; A.G, P.M.N., and D.D. were involved in conception of the study and drafting the manuscript; M.P, S·B., and A.B. were coinvestigators and advisors in manuscript revision; D.D., R.K., J.Y., and I.P. were involved in revising the manuscript critically for important intellectual content. All authors have read the manuscript and approved it for final submission. All authors have agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Not applicable.
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Articles in the same Issue
- Frontmatter
- Reviews
- Pubertal disorders in juvenile idiopathic arthritis: a systemic review
- Hormonal therapy for impaired growth due to pediatric-onset inflammatory bowel disease: a systematic review and meta-analysis with trial sequential analysis
- Mini Review
- Neonatal hypoglycaemia in the offsprings of parents with maturity-onset diabetes of the young (MODY)
- Original Articles
- Cord blood metabolomic profiling in high risk newborns born to diabetic, obese, and overweight mothers: preliminary report
- Impact of Covid-19 on children and adolescents with type 1 diabetes: lifestyle, telecommunication service, and quality of life
- The diagnostic utility of bioelectrical impedance analysis in distinguishing precocious puberty from premature thelarche
- Infant gonadotropins predict spontaneous puberty in girls with Turner syndrome
- Bioinformatics analysis explores key pathways and hub genes in central precocious puberty
- Impact of growth hormone therapy on bone and body composition in prepubertal children with idiopathic short stature
- Presence of hyperandrogenemia in cases evaluated due to menstrual irregularity, the effect of clinical and/or biochemical hyperandrogenemia on polycystic ovary syndrome
- Cardiac function in children with congenital adrenal hyperplasia
- Short Communication
- Clinical and genetic insights into congenital lipoid adrenal hyperplasia: a case series from a tertiary care center in North India
- Case Reports
- Two families, two pathways: a case series of 46, XY DSD with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to novel CYB5A variant
- Coexistence of SRY, DHX37 and POR gene variants in a patient with 46,XY disorder of sex development
- Diabetes, macrocytosis, and skin changes in large-scale mtDNA deletion
