Prenatal ambiguous/atypical genitalia: why are we still missing it and how can we improve diagnosis?

This article discusses the challenges and reasons for the underdiagnosis of prenatal ambiguous or atypical genitalia. The authors highlight the impact of this condition on parents and healthcare professionals, as well as the importance of effective communication and sex assignment. They explore the definitions and prevalence of ambiguous/atypical genitalia and the associated genetic, hormonal, and developmental disorders. The article identifies three main factors contributing to the underdiagnosis: lack of knowledge, lack of strong evidence, and lack of recognition and support. The authors propose strategies to improve prenatal detection, including redefining criteria and implementing comprehensive qualitative and quantitative assessments during mid-pregnancy ultrasound examinations. [Extracted from the article]