46,XY disorder of sex development

This completed study tested hyaluronic acid fillers injected into the penis to increase width and girth in 20 healthy men aged 21 to 65. The main goal was to see if size increased after one year using 3D imaging. The treatment is a temporary cosmetic procedure, not a cure for any…

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 looked at how often children with a rare adrenal gland problem (congenital adrenal insufficiency) experience dangerously low blood sugar. Even with standard treatment, these children may have low blood sugar without obvious symptoms. Researchers monitored 9 children ag…

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…