hrp0084p2-507 | Pituitary | ESPE2015

Fanconi Anemia Endocrine Abnormalities – Case Report

Abreu Liliana , Martins Sofia , Marques Olinda

Background: Fanconi anemia (FA) is a rare, genetically and phenotypically heterogeneous, autosomal or x-linked recessive chromosome instability disorder characterized by multiple congenital anomalies, bone marrow failure, and increased susceptibility to specific malignancies. Other findings, including short stature, skin pigmentation, and endocrine abnormalities have been recognized, most notably GH deficiency (GHD), hypothyroidism, and hypogonadism.Case...