Endocrine Abstracts

JOINT2539

Context: Detection of Differences of Sex Development (DSD) in the prenatal period is increasingly frequent, thanks to improved ultrasound techniques. As no consensus exists regarding prenatal management, we report our practice for suspected isolated DSD referred to our three Multidisciplinary Centers for Prenatal Diagnosis (MCPD) over a period of 10 years.

Material and methods: All women referred for isolated ultra-sonographic suspicion of DSD to our MCPD between January 2013 and December 2022 were included; the data collected were pregnancy course, prenatal ultrasounds, prenatal hormonal and genetic investigations and neonatal outcome. We considered DSD isolated if there is no other suspected malformation at the time of referral to the MCPD, except for minor cardiopathy, renal pyelic dilatation, or intrauterine growth restriction (IUGR). Statistics are descriptive with percentages and medians (Interquartile range, IQR).

Results: 71 patients were referred to the MCPD for a suspected isolated DSD, of which 57 were confirmed and followed by the experts. There were 13 pregnancies achieved by assisted reproductive technology (22. 8%) and 10 multiple pregnancies (17. 5%). For each multiple pregnancy, only one foetus was concerned by DSD. We performed SRY testing on maternal blood and prenatal invasive explorations on 10 (17. 5%) and 34 (59. 6%) mothers, respectively. Twenty-six (76. 5%) hormonal analyses, 22 (64. 7%) biochemical analyses and 34 (100%) genetic tests were performed on amniotic fluid. The genetic analyses encompassed karyotype (100%), CGH array (67. 6%), DSD panel sequencing (14. 7%) and targeted gene analysis (35. 3%). Among our 57 suspected DSD, 42 were confirmed at birth and 2 after medical termination of pregnancy (for X-linked mental retardation or extreme IUGR), 3 were invalidated before birth, 2 were epispadias, 6 false positives, and 2 false negatives. At birth, 23 newborns (52. 3%) had intrauterine growth retardation (IUGR), and 23 (52. 3%) were preterm, including 14 IUGR and 2 induced premature births by amniocentesis. Genetic diagnosis was made in 13 cases, including 5 prenatally, out of them 3 diagnosis involving impaired intellectual prognosis.

Conclusion: Prenatal management of suspected DSD seems to be relevant and requires expert counselling to prepare the birth of DSD-newborns. Out of 57 patients, three exhibited a pathological condition with an altered neurological prognosis. Further prospective multicenter studies are necessary to confirm our Results and formulate recommendations for the prenatal management of DSD.