{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T06:03:09Z","timestamp":1785304989981,"version":"3.55.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,10,23]],"date-time":"2015-10-23T00:00:00Z","timestamp":1445558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Diamond\u2013Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome. The mainstays of treatment involve chronic red cell transfusions, long\u2010term 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedure<\/jats:title><jats:p>In a pilot study, retrospective data were collected for 12 patients with DBA. Subsequently, patients with DBA aged 1\u201339 years were recruited prospectively. Combined, 57 patients were studied; 38 chronically transfused, 12 glucocorticoid\u2010dependent, 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fifty\u2010three percent of patients had \u22651 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 \u22122. Low 25\u2010hydroxy 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.25780","type":"journal-article","created":{"date-parts":[[2015,10,24]],"date-time":"2015-10-24T13:46:12Z","timestamp":1445694372000},"page":"306-312","source":"Crossref","is-referenced-by-count":21,"title":["Endocrine Dysfunction in Diamond\u2013Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR)"],"prefix":"10.1002","volume":"63","author":[{"given":"Amit","family":"Lahoti","sequence":"first","affiliation":[{"name":"Division of Endocrinology Cohen Children's Medical Center (CCMC)  New Hyde Park New York"},{"name":"Hofstra North Shore\u2010LIJ School of Medicine  Hempstead New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yael T","family":"Harris","sequence":"additional","affiliation":[{"name":"Hofstra North Shore\u2010LIJ School of Medicine  Hempstead New York"},{"name":"Internal Medicine\u2010Endocrinology North Shore LIJ Health System (NSLIJHS)  Manhasset New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phyllis W","family":"Speiser","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Cohen Children's Medical Center (CCMC)  New Hyde Park New York"},{"name":"Hofstra North Shore\u2010LIJ School of Medicine  Hempstead New York"},{"name":"Feinstein Institute for Medical Research (FIMR)  Manhasset New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelia","family":"Atsidaftos","sequence":"additional","affiliation":[{"name":"Feinstein Institute for Medical Research (FIMR)  Manhasset New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey M","family":"Lipton","sequence":"additional","affiliation":[{"name":"Hofstra North Shore\u2010LIJ School of Medicine  Hempstead New York"},{"name":"Feinstein Institute for Medical Research (FIMR)  Manhasset New York"},{"name":"Division of Hematology\/Oncology and Stem Cell Transplantation CCMC  New Hyde Park New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrianna","family":"Vlachos","sequence":"additional","affiliation":[{"name":"Hofstra North Shore\u2010LIJ School of Medicine  Hempstead New York"},{"name":"Feinstein Institute for Medical Research (FIMR)  Manhasset New York"},{"name":"Division of Hematology\/Oncology and Stem Cell Transplantation CCMC  New Hyde Park New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,10,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.07269.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1586\/17474086.2014.897923"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.34"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22081"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2009.07793.x"},{"key":"e_1_2_7_7_1","first-page":"605","article-title":"Hereditary hemochromatosis","volume":"99","author":"Fix OK","year":"2008","journal-title":"Minerva Med"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pop.2004.04.007"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0135"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445904"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1033864"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2000.13.3.325"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.06.007"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.21541"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199911000-00011"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-08-375972"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198710223171717"},{"key":"e_1_2_7_18_1","volume-title":"National health statistics reports","author":"Ogden CL","year":"2010"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1864"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-3780"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.1999.00679.x"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-0710"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-73-5-952"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.11.3990"},{"key":"e_1_2_7_25_1","unstructured":"FuleihanGE RC MulderJE BrownEM.Parathyroid hormone secretion and action. 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