Publications by authors named "Ewelina Preizner-Rzucidlo"
Children (Basel)
October 2024
Article Synopsis
- Congenital adrenal hyperplasia (CAH) results from genetic disorders affecting steroid hormone production, with P450scc enzyme being critical for converting cholesterol to pregnenolone; its deficiency leads to hormone shortages.
- A specific case report details a patient with CAH due to P450scc deficiency, characterized by complete 46, XY sex reversal, distinct facial features, and limbs that are shorter than normal; this case seems to be the first recorded in Poland.
- The study concludes that CYP11A1 deficiency is uncommon and leads to primary adrenal insufficiency with diverse sexual development disorders, emphasizing the need for specialized management and potential surgery to reduce risks associated with abnormal gonadal tissue.
