Clinical Analysis Of 4 Patients With Adrenal Hypoplasia Congenita And Precocious Puberty Caused By DAX-1 Gene Mutations

Objective: to explore the characteristics and relationship between gene mutation and clinical phenotype.by analyzing the clinical features and gene molecular changes of 4 patients with adrenal hypoplasia congenita(AHC)and precocious puberty caused by DAX-1 gene mutation.Methods:summarizing the clinical data,assaying adrenocorticotrophin(ACTH),luteinising hormone(LH),follicle stimulating hormone(FSH),testosterone(T),cortisol,aldosterone,renin and gene sequencing.Results: 4 patients had onset of adrenocortical hypofunction in the infancy,the DAX-1 test revealed gene mutation or deletion,after definite diagnosis was X-linked adrenal hypoplasia congenita.adrenocortical hormone replacement therapy was initiated,The treatment effect is satisfactory.however,Four patients showed enlargement of Penis and testes at different ages.Blood examinations revealed hyper responses of gonadotropins to Gn RH stimulation,ther were diagnosed withcentral precocious puberty.Conclusion: Temporary central precocious puberty can occur inadrenal hypoplasia congenita caused by DAX1 mutation.