Diagnosis and Management of 46 XX Disorders of Sex Development (DSD) Aromatase Deficiency in Resource-Restricted Setting

Abstract

A 12 years old children with genital ambiguity was reported. Late diagnosed was occurred due to complexity of the disease. Initial assessment in newborn baby is importance for early diagnosis and prompt treatment for disorder of sex development with genital ambiguity. Experienced multidisciplinary team is required for optimal care children with DSD. Further monitoring and continuous follow up are needed to evaluate response of hormonal replacement therapy, surgical options, potential for fertility, and psychosocial development to improve patient QoL.