George Arun, Rallapalli Anvitha, Nanda Pamali Mahasweta, Peters Mrinalini, Banerjee Sayan, Bala Anju, Panigrahi Inusha, Kumar Rakesh, Yadav Jaivinder, Dayal Devi
Department of Pediatrics, Endocrinology and Diabetes Unit, 29751 Post Graduate Institute of Medical Education and Research , Chandigarh, India.
Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
J Pediatr Endocrinol Metab. 2025 Apr 21;38(6):644-648. doi: 10.1515/jpem-2024-0624. Print 2025 Jun 26.
To describe the clinical and genetic profiles of eight patients diagnosed with Congenital Lipoid Adrenal Hyperplasia (CLAH) at a tertiary center in North India.
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.
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.
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.
描述在印度北部一家三级中心诊断为先天性类脂质肾上腺增生（CLAH）的8例患者的临床和基因特征。
对2020年1月至2024年6月期间基因确诊的8例CLAH患儿进行回顾性分析。回顾了临床表现、人体测量学、生化参数、基因突变和治疗方面的数据。
7例患者表现为非经典型，1例为经典型。症状出现、就诊和诊断时的中位（IQR）年龄分别为2.50（1.25 - 3.82）岁、5.40（1.70 - 8.37）岁和6.31（4.20 - 9.12）岁。100%的患者出现皮肤色素沉着，75%发育不良，50%脱水，62.5%癫痫发作，25%低血压。生化异常包括62.5%的患者出现低钠血症和低血糖，37.5%的患者出现高钾血症。基因分析在STAR基因中鉴定出错义变异，6例患者携带p.Arg-¹⁸⁸Cys变异，提示存在奠基者效应。所有患者均接受糖皮质激素和盐皮质激素替代治疗。所有患者均无生殖器模糊或性腺功能减退。
非经典型CLAH在印度人群中似乎比以前认识到的更为普遍。基因检测有助于在资源有限的环境中进行准确的诊断和管理。终身随访对于监测青春期和性腺功能至关重要。
