{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T15:51:25Z","timestamp":1648569085600},"reference-count":26,"publisher":"Walter de Gruyter GmbH","issue":"0","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,1,18]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.<\/jats:p>","DOI":"10.1515\/jpem-2016-0299","type":"journal-article","created":{"date-parts":[[2016,10,18]],"date-time":"2016-10-18T07:24:17Z","timestamp":1476775457000},"source":"Crossref","is-referenced-by-count":0,"title":["A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism"],"prefix":"10.1515","volume":"0","author":[{"given":"Nurin","family":"Jivani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Torrado-Jule","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Vaiselbuh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleny","family":"Romanos-Sirakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref251","first-page":"1159","article-title":"Leukaemia in patients treated with growth hormone","volume":"1","year":"1988","journal-title":"Lancet"},{"key":"ref101","first-page":"1159","article-title":"Leukaemia in patients treated with growth hormone","volume":"1","year":"1988","journal-title":"Lancet"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1097\/MPH.0b013e3182667c13","article-title":"Shwachman-Diamond syndrome: diarrhea, no longer required?","volume":"35","year":"2013","journal-title":"J Pediatr Hematol Oncol"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0022-3476(99)70332-X","article-title":"Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar","volume":"135","year":"1999","journal-title":"J Pediatr"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.jpeds.2013.11.039","article-title":"Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond syndrome registry","volume":"164","year":"2014","journal-title":"J Pediatr"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0022-3476(99)70332-X","article-title":"Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar","volume":"135","year":"1999","journal-title":"J Pediatr"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng1062","article-title":"Mutations in SBDS are associated with Shwachman-Diamond syndrome","volume":"33","year":"2003","journal-title":"Nat Genet"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1620\/tjem.206.253","article-title":"Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations","volume":"206","year":"2005","journal-title":"Tohoku J Exp Med"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1177\/0009922808323114","article-title":"Shwachman-Diamond syndrome presenting as hypoglycemia","volume":"48","year":"2009","journal-title":"Clin Pediatr"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1007\/s12020-011-9460-7","article-title":"A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis","volume":"40","year":"2011","journal-title":"Endocrine"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/j.1399-0004.2010.01468.x","article-title":"Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation","volume":"79","year":"2011","journal-title":"Clin Genet"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng1062","article-title":"Mutations in SBDS are associated with Shwachman-Diamond syndrome","volume":"33","year":"2003","journal-title":"Nat Genet"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1002\/pbc.20110","article-title":"Growth hormone and the risk of malignancy","volume":"43","year":"2004","journal-title":"Pediatr Blood Cancer"},{"key":"ref121","first-page":"2192","article-title":"Risk of neoplasia in pediatric patients receiving growth hormone therapy\u2013A report from the Pediatric Endocrine Society Drug and Therapeutics Committee","volume":"100","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/j.1399-0004.2010.01468.x","article-title":"Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation","volume":"79","year":"2011","journal-title":"Clin Genet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1620\/tjem.206.253","article-title":"Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations","volume":"206","year":"2005","journal-title":"Tohoku J Exp Med"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1002\/pbc.20110","article-title":"Growth hormone and the risk of malignancy","volume":"43","year":"2004","journal-title":"Pediatr Blood Cancer"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1097\/MPH.0b013e3182667c13","article-title":"Shwachman-Diamond syndrome: diarrhea, no longer required?","volume":"35","year":"2013","journal-title":"J Pediatr Hematol Oncol"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.jpeds.2012.11.062","article-title":"Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome","volume":"162","year":"2013","journal-title":"J Pediatr"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1111\/j.1749-6632.2011.06349.x","article-title":"Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome","volume":"1242","year":"2011","journal-title":"Ann NY Acad Sci"},{"key":"ref271","first-page":"2192","article-title":"Risk of neoplasia in pediatric patients receiving growth hormone therapy\u2013A report from the Pediatric Endocrine Society Drug and Therapeutics Committee","volume":"100","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.jpeds.2012.11.062","article-title":"Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome","volume":"162","year":"2013","journal-title":"J Pediatr"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1111\/j.1749-6632.2011.06349.x","article-title":"Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome","volume":"1242","year":"2011","journal-title":"Ann NY Acad Sci"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.jpeds.2013.11.039","article-title":"Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond syndrome registry","volume":"164","year":"2014","journal-title":"J Pediatr"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1177\/0009922808323114","article-title":"Shwachman-Diamond syndrome presenting as hypoglycemia","volume":"48","year":"2009","journal-title":"Clin Pediatr"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1007\/s12020-011-9460-7","article-title":"A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis","volume":"40","year":"2011","journal-title":"Endocrine"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.ahead-of-print\/jpem-2016-0299\/jpem-2016-0299.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2016-0299\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:41:29Z","timestamp":1619055689000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2016-0299\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,18]]},"references-count":26,"journal-issue":{"issue":"0"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2016-0299","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2016,1,18]]}}}