Multihormonal hypopituitarism, hypothyroidism and hypoparathyroidism in a 17-years-old girl with Diamond-Blackfan anemia and secondary hemochromatosis.

Abstract

Congenital hypoplastic anemia (Diamond-Blakcfan syndrom) is a genetically determined disorder which is manifested in early childhood with selective deficiency of erythrocyte line in bone marrow. Severe anemia usually appears in the first six months of life. Survival depends on blood transfusions, which in consequence lead to hemochromatosis. The most common complications of transfusional hemochromatosis are hepatic cirrhosis, hypopituitarism, hypogonadism, diabetes mellitus, other endocrinopathies, and cardiomyopathy. We present the case of 17 years old girl with congenital hypoplastic anemia and multihormonal insufficiency due to secondary hemochromatosis.

• Authors: Ewa Głąb, Ewa Barg, Beata Wikiera, Jolanta Bieniasz
• Journal: Pediatric endocrinology, diabetes, and metabolism (Pediatr Endocrinol Diabetes Metab) Vol. 19 Issue 3 Pg. 111-4 ( 2013) ISSN: 2081-237X [Print] Poland
• PMID: 25577899 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Anemia, Diamond-Blackfan (therapy)
• Female
• Hemochromatosis (diagnosis, etiology)
• Humans
• Hypoparathyroidism (etiology)
• Hypopituitarism (etiology)
• Hypothyroidism (etiology)
• Liver Cirrhosis (etiology)
• Transfusion Reaction