Abstrakt: |
Researchers at the National Academy of Sciences of Ukraine have released new data on gonadal dysgenesis, a condition characterized by undeveloped testes in individuals with a male karyotype. The researchers identified a mutation in the STARD8 gene that may contribute to 46,XY gonadal dysgenesis. Molecular dynamics simulations revealed that this mutation may cause dysfunction in the STARD8 protein, leading to the condition. The researchers suggest including STARD8 in gene panels for 46,XY gonadal dysgenesis based on their findings. [Extracted from the article] |