目的 探讨X连锁先天性肾上腺发育不良（AHC）的临床特点及诊断。方法 回顾性分析1 例AHC患儿的临床资料及基因检测结果，并复习相关文献。结果 2个月男性患儿，生后即出现体质量不增伴呕吐，伴有肾上腺功能不全失盐危象。基因检测发现NROB1基因错义突变，确诊为X-连锁先天性肾上腺发育不良。结论 X连锁先天性肾上腺发育不良是一种罕见病，诊断主要是通过临床表现、实验室检测及NROB1基因检测。

Objective To explore the clinical feature and diagnosis of the X linked adrenal hypoplasia congenital (X-AHC). Methods The clinical data and gene detection results of one case of AHC were retrospectively analyzed. The related literatures were reviewed. Results Two-month-old male infant was suffered with slow weight gain, vomiting, and salt craving of adrenal insufficiency after birth. Gene detection found a new missense mutation on NROB1 gene. The diagnosis of X-AHC was confirmed. Conclusions X-AHC is a kind of rare disease and is diagnosed by clinical manifestation, laboratory testing, and NROB1 gene detection.