Clinical Analysis Of 8 Patients Of Congenital Lipoid Adrenal Hyperplasia

Objective:To explore the clinical characteristics,the relationships between clinical phenotype and gene mutation,and the treatment of congenital lipoid adrenal hyperplasia,by analyzing the clinical data,types of genetic mutations and follow-up results of 8 patients.Methods:Summarizing and analyzing the clinical data,treatment,gene sequencing and follow-up results of 8 patients.Results: All patients showed adrenal insufficiency such as skin pigmentation,vomiting/diarrhea,electrolyte disturbance.5 patients of 46,XY showed female external genitalia and 1 patient of 46,XY showed male external genitalia.The results of steroid hormone level and ACTH excitation test are in accordance with the pathological mechanism of LCAH.All patients were diagnosed with mutations in the StAR gene.Among them,p.Q33 X and p.K111 E were unreported new mutation types.All patients were given adrenocortical hormone replacement therapy,and the treatment effect was satisfactory.Conclusion:Congenital lipoid adrenal hyperplasia is mainly manifested as primary adrenal insufficiency and disordered synthesis of sexhormones.The diagnosis is based on clinical characteristics,steroid hormone levels,ACTH excitation test and genetic results.The clinical manifestations are related to the type of gene mutation and residual enzyme activity.46,XY non-classical LCAH patients can show normal male external genitalia and androgen synthesis.p.Q33 X and p.K111 E are considered as new pathogenic mutations.The p.Q77 X mutation is more common in our report.Early hormone replacement therapy,regular medication,and regular follow-up can improve the patient’s long-term prognosis.