目的:分析一例先天性孤立性促肾上腺皮质激素缺乏症(isolated adrenocorticotropic hormone deficiency，IAD)患儿的临床及遗传学特点。方法:回顾性分析1例先天性IAD患儿的临床特点，通过全外显子测序对患儿家系进行基因检测。结果:基因检测结果显示患儿携带n TBX19基因c.535C>T(p.R179X)和c.298C>T(p.R100C)复合杂合变异，其中c.535C>T(p.R179X)遗传自父亲，为已报道的致病性变异；c.298C>T(p.R100C)遗传自母亲，既往未见报道。n 结论:先天性IAD临床缺乏特异性，n TBX19基因检测是确诊的关键。n “,”Objective:To analyze the clinical and genetic characteristics of a patient with congenital isolated adrenocorticotropic hormone deficiency (IAD).Methods:Clinical characteristics of the patient was reviewed. Genomic DNA of the child was subjected to whole exome sequencing.Results:Genetic testing has confirmed the diagnosis of congenital IAD by identification of compound heterozygous variants of the n TBX19 gene, which included a pathogenic nonsense c. 535C>T (p.R179X) variant inherited from his father and a novel missense c. 298C>T (p.R100C) variant inherited from his mother.n Conclusion:Congenital IAD due to variants of the n TBX19 gene is a rare autosomal recessive disease. It is characterized by low plasma adrenocorticotropic hormone and cortisol levels but normal levels of other pituitary hormones. Delayed diagnosis may lead to severe early-onset adrenal failure and wrong treatment which may result in neonatal mortality. Hydrocortisone replacement is effective. Detection of pathogenic variant of n TBX19 gene is the key to diagnosis.n