Different Sexual Development

Abstract

Differences/disorders of sex development (DSD) are a heterogenous group of congenital conditions, in which the development of chromosomal, gonadal, or anatomical sex is atypical. DSD are categorized based on the chromosomal constitution of the sexual pair (first stage of differentiation). The classification also recognizes the entire underlying pathways of normal sexual differentiation: gonadal development and hormonal synthesis and action. Clinical findings that suggest DSD and a need for further evaluation are different throughout life. All individuals with suspected DSD need a thorough diagnostic evaluation that includes a detailed personal and family anamnesis, a complete physical exam with assessment of the external genitalia, biochemical determinations, genetic investigations, and imaging studies. Surgeons are important members of the multidisciplinary expert team involved in the initial approach and long-term follow-up. Surgical care of DSD patients is one of the main challenges. Surgical procedures are aimed to reduce urologic problems, prevent the risk of gonadal germ-cell cancer (GCC), and facilitate sexual function and reproduction. Recommendations regarding the opportunity and timing of surgical procedures are still under discussion. Genital appearance, psychosocial support, sociocultural background, gender identity development, and genetic and biochemical analysis, in addition to ethical and legal implications, need to be considered when deciding on the appropriate treatment strategy.