[Management of a fetus suspected of differences of sex development (DSD).]

Abstract

The management of a fetus suspected of having a variation in genital development is a complex situation. In cases of complete discordance or an unusual appearance of the external genitalia (EG), management always begins with a diagnostic morphological ultrasound. This ultrasound aims to provide detailed imaging of the EG and internal genitalia (IG), focusing on identifying the presence of Müllerian derivatives and detecting any associated malformations. During a multidisciplinary meeting, we should assess the appropriateness of determining the genetic sex through cell-free DNA analysis and to refer the patient to an expert center if necessary.These clinical situations include all atypical presentations of the genital organs with the inability to determine the phenotype, as well as any hypospadias associated with other genital organ involvement. Patients presenting with isolated posterior (or proximal) hypospadias also benefit from an assessment at an expert center. Isolated anterior and middle hypospadias (with negative genetic findings) are excluded from this protocol. Performing an invasive sampling is almost always indicated. The expert center provides the couple with information on the different variations of genital development and the perspectives of managing the child, explaining the recently proposed paradigm shift, according to the new decree of November 15, 2022, in application of Article L-2131-6 of the Public Health Code, which now entails, in some of these situations, delayed surgical management. The diagnostic and prognostic uncertainty of the developmental variation is communicated to the couples. Multidisciplinary care is therefore essential to establish an accurate diagnosis, define the anatomical and functional prognosis, and propose the most appropriate surgical strategy, taking into account the associated morbidities, defining whether or not to adopt a surgical strategy, and providing the most suitable surgical approach, as well as supporting the couple and the child in dealing with this situation.