Overview
Differences in sex development (DSD) are a group of conditions where the development of chromosomal, gonadal, or anatomical sex is atypical. Individuals may have ambiguous genitalia or differences in reproductive anatomy.
Symptoms
Ambiguous genitalia at birth Delayed or atypical puberty Infertility Hormonal imbalances
Causes
Genetic mutations affecting sex chromosomes or genes Hormonal disorders during fetal development Enzyme deficiencies affecting sex hormone synthesis
Diagnosis
Chromosomal analysis (karyotyping) Hormone level tests Imaging studies of internal reproductive organs Genetic testing for specific mutations
Treatment
Hormone replacement therapy if needed Surgical correction for anatomical differences in some cases Psychological support and counseling Individualized management plans
Complications
Infertility Psychosocial challenges Risk of gonadal tumors in some DSD types
Prevention
Genetic counseling for at-risk families Early diagnosis and intervention Supportive care to reduce psychosocial impact