This reprint focuses on the diagnostic and therapeutic management as well as potential genetic causes of syndromes belonging to the group of differences of sex development (DSD). Uterus and vaginal aplasia in MRKH syndrome as well as complex obstructive malformations, adrenogenital syndrome, and cloacal exstrophy are addressed, and the interdisciplinary approach and special needs of affected patients are emphasized.

Long-term results after surgical therapies are given and new potential genetic causes are described. A standardized procedure in diagnostics and therapy is essential to avoid misdiagnoses and inappropriate and/or unnecessary surgery and complications that lead to prolonged suffering and negatively influence the individual's reproductive future.

The objective of this Special Issue was to develop and evaluate the concepts, strategies, and outcomes necessary to improve access to quality care for women suffering from complex genital malformations by taking into account the impact of primary care and patient empowerment, as well as to optimize the interdisciplinary approach. .