Goyal Alpesh, Boro Hiya, Khandelwal Deepak, Khadgawat Rajesh
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.
Department of Endocrinology and Metabolism, Maharaja Agrasen Hospital, Punjabi Bagh, New Delhi, India.
Indian J Endocrinol Metab. 2018 Nov-Dec;22(6):843-847. doi: 10.4103/ijem.IJEM_501_18.
The term adrenocorticotropin (ACTH) resistance syndrome is used for a group of rare inherited disorders, which present with primary adrenal insufficiency during childhood. The syndrome includes two disorders inherited in an autosomal recessive fashion - familial glucocorticoid deficiency and triple A syndrome. Herein, we report our experience of three cases with ACTH resistance syndrome, highlighting the approach to diagnosis and management in such patients.
促肾上腺皮质激素（ACTH）抵抗综合征这一术语用于一组罕见的遗传性疾病，这些疾病在儿童期表现为原发性肾上腺功能不全。该综合征包括两种以常染色体隐性方式遗传的疾病——家族性糖皮质激素缺乏症和三A综合征。在此，我们报告我们对三例ACTH抵抗综合征患者的诊治经验，重点介绍对此类患者的诊断和管理方法。
