Endocrine Abstracts

Introduction: Diamond Blackfan anaemia (DBA) is a rare disorder of red blood cell aplasia characterized by normocytic or macrocytic anaemia and reticulocytopaenia. Short stature, of multifactorial aetiology, is often present. Some patients are glucocorticoid-responsive, while others remain transfusion-dependent leading to iron overload.

Case Report: Asymmetrical growth restriction was present at birth. Aged ten weeks, severe anaemia developed. Bone marrow aspirate was in keeping with DBA. Initial treatment was transfusion and high-dose prednisolone. Relapse occurred at age of 4 years. Steroids were recommenced with no response, resulting in transfusion-dependence and a requirement for iron chelation therapy.

Growth hormone therapy was administered for 10 years, achieving a final height of 139 cm (<0.4th centile). Menarche was attained age 15 with subsequent oligomenorrhoea. Gonadotrophins were elevated (LH 18.7 U/L, FSH 8.1 U/L) with detectable oestradiol (163 pmol/L). Ultrasound of pelvis was normal as were androgens. Growth hormone remained detectable (1.0 ug/L) with low IGF-1 61 ug/L (96–417). The remainder of pituitary and adrenal function was normal. Glucose was 4.8 mmol/L. PTH was 7.8 pmol/L (1.6–7.5) and vitamin D 48 nmol/L (>50). DEXA demonstrates osteoporosis. Cardiac and liver MRI demonstrated no significant iron overload.

Discussion: Over half of DBA patients have one or more endocrinopathies including adrenal insufficiency, hypogonadism, hypothyroidism, growth hormone dysfunction, diabetes mellitus and diabetes insipidus. Osteoporosis, osteopenia and parathyroid disease have also been described.

Although endocrinopathies in DBA have been reported, there are no specific DBA endocrine guidelines on screening. Regular assessments of growth and puberty are recommended. Growth hormone therapy should be considered as indicated. Delayed puberty should be investigated. Surveillance should continue into adulthood for secondary gonadal failure. Patients should be monitored for glucose intolerance, in addition to screening for adrenal and pituitary dysfunction in those on chronic glucocorticoid therapy or iron overload. Measurement of bone mineral density is also recommended.