Publications by authors named "Filipa Marina Patriarca"
Article Synopsis
- Congenital hypogonadotropic hypogonadism (CHH) is a condition where individuals do not undergo normal puberty due to insufficient gonadotropin-releasing hormone (GnRH), often linked to genetic mutations.
- A study on 50 Portuguese patients found that 16% had rare mutations in the CHD7 gene, with five mutations being previously unreported.
- These findings suggest that CHD7 mutations are more common in CHH patients than mutations in other known CHH-related genes, highlighting the need to include CHD7 in genetic testing for CHH cases, even without CHARGE syndrome traits.
