46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

This completed observational study at Uşak University examined 150 adults hospitalized in the endocrinology department. Researchers measured breathing, muscle strength, pain, fatigue, sleep quality, physical activity, balance, and nerve function. The goal was to better understand…

This study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…

This study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…