NR0B1 Gene Mutation In A Case With X-linked Adrenal Hypoplasia Congenital

Objective:By analyze the clinical manifestations,blood biochemical indexes,hormonal levels and NR0B1 gene mutation characteristics of X-linked adrenal hypiplasia congenital,which is result from NR0B1 mutation,to better recognize and treatment it.Methods : One case of 1 month old boy with adrenal hypoplasia congenital was analyzed.Clinical data of the patient was collected and 2 ml venous blood of the patient and his parents were extracted.All genes related to abnormal development of adrenal were sequenced by next generation sequencing.Results:The proband,born with pigmentation in the whole body skin,as he was 22 days old,he presented with restless without any reason,poor eating,vomiting.Furthermore,his blood biochemical indexes and hormone levels,such as corticotropin,cortison,17? hydroxyprogesterone,are abnormal.The proband was diagnosed with congenital adrenal hyperplasia.As a result,a NR0B1 gene frameshift mutation was detected.It had been reported was related to adrenal hypoplasia in Human Gene Mutation Database.Meanwhile,it was verified by sanger sequencing.Both his parents' NR0B1 gene were analyzed.The mutation was absent in his father,while his mother was shown to be the carrier of NR0B1 gene mutation.Steroid replacement therapies such as hydrocortisone and fludrocortisone and salt replacement therapy were supplied to the proband,he improved significantly.Conclusions : X-linked Congenital adrenal hypoplasia,which is a X-linked recessive disorder,is one kind of steroid metabolic diseases,the incidence of this disease is very low,some clinical features of it are the same as congenital adrenal hyperplasia.Genetic test is of great significance for the diagnosis of both diseases.The clinical features of different patients are very different.The earlier the onset of adrenal insufficiency,the more severe the clinical manifestations.Early onset,mainly manifested as adrenal dysplasia.The main treatments are regular steroid replacement such as hydrocortisone and fludrocortisone and sometimes salt replacement.The earlier diagnosis and treatment,the better the prognosis.