Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia

por Silva, Rita Santos, Carvalho, Berta, Pedro, Jorge, Castro-Correia, Cíntia, Carvalho, Davide, Carvalho, Filipa, Fontoura, Manuel
Publicado 2022

46,XX male disorder of sexual development

por Adrião, Mariana, Ferreira, Sofia, Silva, Rita Santos, Garcia, Maria, Dória, Sofia, Costa, Carla, Castro-Correia, Cíntia, Fontoura, Manuel
Publicado 2020

MON-478 Impaired Sensitivity to Thyroid Hormone - A Diagnostic and Therapeutic Challenge

por Pedro, Jorge, Gorito, Vanessa, Ferreras, Cristina, Maria, Ferreira João Silva, Ferreira, Sofia, Costa, Carla, Silva, Rita Santos, Correia, Cíntia Castro, Fontoura, Manuel
Publicado 2020

Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome

por Nogueira, Mayara, Pinheiro, Marta, Maia, Ruben, Silva, Rita Santos, Costa, Carla, Campos, Teresa, Leão, Miguel, Vitor, Artur Bonito, Castro-Correia, Cíntia, Fontoura, Manuel
Publicado 2020