Hipocortisolismo hipofisario por sobrecarga férrica en un paciente con Anemia de Blackfan-Diamond

  1. Olaia Díaz Trastoy 1
  2. Nuria Vázquez Temprano 1
  3. Paula Sánchez Sobrino 1
  1. 1 Complexo Hospitalario Universitario de Pontevedra
    info

    Complexo Hospitalario Universitario de Pontevedra

    Pontevedra, España

    ROR https://ror.org/016cxc226

Journal:
Galicia Clínica

ISSN: 0304-4866 1989-3922

Year of publication: 2022

Volume: 83

Issue: 1

Pages: 40-41

Type: Article

DOI: 10.22546/64/2442 DIALNET GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Galicia Clínica

Abstract

Iron overload in the context of a Blackfan-Diamond anemia is a extremely uncommon cause of central adrenal insufficiency. We report a patient with Blackfan-Diamond anemia diagnosis during his childhood. Ten years later, as a consequence of iron overload caused by repeated transfusions, he developed central hypocortisolism. Blackfan-Diamond anemia is a hereditary syndrome characterized by erythroid aplasia, predisposition to hematologic and solid organ malignancies and congenital abnormalities. Endocrine complications of Blackfan-Diamond anemia are reported in the literature and highly variable. Hypocortisolism is considered as an uncommon complication (0.7-4 %). Therefore, in a patient with repeated transfusions, we must considerer in a possible ACTH deficiency in the context of hemochromatosis due to iron overload