Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR).
BACKGROUND
Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome. The mainstays of treatment involve chronic red cell transfusions, long-term glucocorticoid therapy, and stem cell transplantation. Systematic data concerning endocrine function in DBA are limited. We studied patients in the DBA Registry (DBAR) of North America to assess the prevalence of various endocrinopathies.


METHODS
In a pilot study, retrospective data were collected for 12 patients with DBA. Subsequently, patients with DBA aged 1-39 years were recruited prospectively. Combined, 57 patients were studied; 38 chronically transfused, 12 glucocorticoid-dependent, and seven in remission. Data were collected on anthropometric measurements, systematic screening of pituitary, thyroid, parathyroid, adrenal, pancreatic, and gonadal function, and ferritin levels. Descriptive statistics were tabulated and group differences were assessed.


RESULTS
Fifty-three percent of patients had ≥ 1 endocrine disorder, including adrenal insufficiency (32%), hypogonadism (29%), hypothyroidism (14%), growth hormone dysfunction (7%), diabetes mellitus (2%), and/or diabetes insipidus (2%). Ten of the 33 patients with available heights had height standard deviation less than -2. Low 25-hydroxy vitamin D (25(OH)D) levels were present in 50%. A small proportion also had osteopenia, osteoporosis, or hypercalciuria. Most with adrenal insufficiency were glucocorticoid dependent; other endocrinopathies were more common in chronically transfused patients.


CONCLUSIONS
Endocrine dysfunction is common in DBA, as early as the teenage years. Although prevalence is highest in transfused patients, patients taking glucocorticoids or in remission also have endocrine dysfunction. Longitudinal studies are needed to better understand the etiology and true prevalence of these disorders.
Division of Endocrinology, Cohen Children's Medical Center (CCMC), New Hyde Park, New York.|Hofstra North Shore-LIJ School of Medicine, Hempstead, New York.
Amit
A
Lahoti
Hofstra North Shore-LIJ School of Medicine, Hempstead, New York.|Internal Medicine-Endocrinology, North Shore LIJ Health System (NSLIJHS), Manhasset, New York.
Yael T
YT
Harris
Division of Endocrinology, Cohen Children's Medical Center (CCMC), New Hyde Park, New York.|Hofstra North Shore-LIJ School of Medicine, Hempstead, New York.|Feinstein Institute for Medical Research (FIMR), Manhasset, New York.
Phyllis W
PW
Speiser
Feinstein Institute for Medical Research (FIMR), Manhasset, New York.
Evangelia
E
Atsidaftos
Hofstra North Shore-LIJ School of Medicine, Hempstead, New York.|Feinstein Institute for Medical Research (FIMR), Manhasset, New York.|Division of Hematology/Oncology and Stem Cell Transplantation, CCMC, New Hyde Park, New York.
Jeffrey M
JM
Lipton
Hofstra North Shore-LIJ School of Medicine, Hempstead, New York.|Feinstein Institute for Medical Research (FIMR), Manhasset, New York.|Division of Hematology/Oncology and Stem Cell Transplantation, CCMC, New Hyde Park, New York.
Adrianna
A
Vlachos
D000293:Adolescent; D000328:Adult; D029503:Anemia, Diamond-Blackfan / Q000150:complications* / Q000628:therapy; D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D004700:Endocrine System Diseases / Q000453:epidemiology* / Q000209:etiology*; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008297:Male; D010865:Pilot Projects; D015995:Prevalence; D012042:Registries; D012189:Retrospective Studies; D055815:Young Adult
D005938:Glucocorticoids
adrenal insufficiency; growth; hypogonadism; iron overload; osteoporosis; vitamin D deficiency