Ewha Med J.  2020 Oct;43(4):65-69. 10.12771/emj.2020.43.4.65.

Acquired Hypopituitarism in Diamond-Blackfan Anemia

• Yun JY
• Choi JE
• Kim HS
• Ryu KH

• KMID: 2507781
• DOI: http://doi.org/10.12771/emj.2020.43.4.65

Abstract

Diamond-Blackfan anemia (DBA) is a rare, inherited bone marrow failure syndrome that manifests as anemia in early infancy. Blood transfusion is a critical factor for survival. However, blood transfusions can result in iron overload. Endocrinopathies, hepatic cirrhosis, and cardiomyopathy are the most common complications of iron overload. Here, we report the case of an 18-year-old boy with DBA with hyperglycemia, short stature, and absence of puberty. The patient showed endocrine dysfunction associated with iron overload caused by repeated transfusions. He was eventually diagnosed with acquired hypopituitarism and was placed on testosterone replacement therapy. Endocrine dysfunction is common in patient with DBA, with an early manifestation of symptoms, even in teenage years. Patients receiving corticosteroid treatment or those in remission may also exhibit endocrine dysfunction, although its prevalence is the highest among chronic transfusion patients. Ongoing monitoring and evaluation of growth and pubertal development are needed for better management of these disorders.

Keyword

Diamond-Blackfan anemia; Blood transfusion; Iron overload; Hypogonadism; Endocrine system diseases

Figure

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  Fig. 1 Growth curve: height/stature-for-age curve.

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  Fig. 2 (A) Anterior-posterior view of the left hand: the bone age was 15 years (chronological age, 18 years). (B) Pituitary magnetic resonance imaging: pituitary magnetic resonance imaging showing lack of physiologic hyperplasia of the pituitary gland, but no evidence of abnormal enhancement or mass-like lesion. A total fatty marrow change involving the skull and upper C-spine is noted, probable due to Diamond Blackfan anemia. Patient’s consent for photo publication was obtained.

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