Elsevier, Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics (Second Edition) 2023, Pages 431-449.e2
Disorders of sex development (DSD) refers to a group of conditions in which prenatal sex development is not typical. This usually results in external genitalia that are atypical or ambiguous in appearance. DSD may result from hormonal defects, congenital malformations, chromosomal abnormalities, or molecular defects that alter the differentiation of the bipotential gonad into a testis or ovary during fetal life. Some DSD are associated with defects in kidney or renal development, or inborn errors of metabolism. It is important that these patients have a thorough evaluation by an experienced team of specialists in order to arrive at a diagnosis and develop a treatment plan.