The NROB 1 gene missense mutation causes congenital adrenal dysplasia:a case report / 临床儿科杂志

ABSTRACT

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 insufifciency after birth. Gene detection found a new missense mutation on NROB 1 gene. The diagnosis of X-AHC was conifrmed. Conclusions X-AHC is a kind of rare disease and is diagnosed by clinical manifestation, laboratory testing, and NROB 1 gene detection.