{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T05:39:24Z","timestamp":1757309964476},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,1,28]]},"abstract":"Abstract<\/jats:title>\n\nBackground<\/jats:title>\nH syndrome ([OMIM] 602782) is an autosomal recessive disorder with systemic manifestations and characteristic skin lesions, caused by mutations of the SLC29A3<\/jats:italic> gene. Short stature and diabetes mellitus are the major endocrine problems related to H syndrome, however, clear data from clinical follow-up of H syndrome patients is lacking in the literature.<\/jats:p><\/jats:sec>\n\nCase presentation<\/jats:title>\nHere, we present follow-up of a Turkish girl diagnosed with H syndrome at the age of 10 with a homozygous 310(c.933T>A, p.C310X) early stop codon mutation on exon 6 of the SLC29A3<\/jats:italic> gene. She had severe short stature non-responsive to growth hormone (GH) treatment and gluten-free diet despite low GH levels and celiac antibody positivity. She developed insulin dependent diabetes mellitus (IDDM) symptoms 6 years after the initial diagnosis.<\/jats:p><\/jats:sec>\n\nConclusions<\/jats:title>\nH syndrome patients can develop IDDM years after characteristic symptoms. Short stature in H syndrome patients may not respond to GH replacement or gluten-free diet alone.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2018-0380","type":"journal-article","created":{"date-parts":[[2018,12,5]],"date-time":"2018-12-05T09:03:32Z","timestamp":1544000612000},"page":"89-93","source":"Crossref","is-referenced-by-count":6,"title":["A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis"],"prefix":"10.1515","volume":"32","author":[{"given":"Can","family":"Ozlu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gul","family":"Yesiltepe Mutlu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sukru","family":"Hatun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref51","first-page":"43","article-title":"Evaluation of short and tall stature in children","volume":"92","year":"2015","journal-title":"Am Fam Physician"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1186\/s12969-017-0204-y","article-title":"H syndrome: 5 new cases from the United States with novel features and responses to therapy","volume":"15","year":"2017","journal-title":"Pediatr Rheumatol"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.diabet.2013.03.007","article-title":"SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis","volume":"39","year":"2013","journal-title":"Diabetes Metab"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.1525-1470.2007.00352.x","article-title":"Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?","volume":"24","year":"2007","journal-title":"Pediat Derm"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.jaad.2013.09.019","article-title":"The H syndrome: the first 79 patients","volume":"70","year":"2014","journal-title":"J Am Acad Dermatol"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1525-1470.2006.00201.x","article-title":"POEMS in childhood","volume":"23","year":"2006","journal-title":"Pediatr Dermatol"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"2257","DOI":"10.1093\/hmg\/ddp161","article-title":"SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway","volume":"18","year":"2009","journal-title":"Hum Mol Genet"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.jaad.2013.09.019","article-title":"The H syndrome: the first 79 patients","volume":"70","year":"2014","journal-title":"J Am Acad Dermatol"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.2340\/00015555-2145","article-title":"H syndrome: a multifaceted histiocytic disorder with hyperpigmentation and hypertrichosis","volume":"95","year":"2015","journal-title":"Acta Dermato Venereologica"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.1525-1470.2007.00352.x","article-title":"Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?","volume":"24","year":"2007","journal-title":"Pediat Derm"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1007\/s10875-016-0301-6","article-title":"A case of SLC29A3 Spectrum disorder-unresponsive to multiple immunomodulatory therapies","volume":"36","year":"2016","journal-title":"J Clin Immunol"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1525-1470.2006.00201.x","article-title":"POEMS in childhood","volume":"23","year":"2006","journal-title":"Pediatr Dermatol"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1186\/s12969-017-0204-y","article-title":"H syndrome: 5 new cases from the United States with novel features and responses to therapy","volume":"15","year":"2017","journal-title":"Pediatr Rheumatol"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1007\/s10875-016-0301-6","article-title":"A case of SLC29A3 Spectrum disorder-unresponsive to multiple immunomodulatory therapies","volume":"36","year":"2016","journal-title":"J Clin Immunol"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"e70","DOI":"10.1111\/pde.12085","article-title":"Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation","volume":"30","year":"2013","journal-title":"Pediatr Dermatol"},{"key":"ref221","first-page":"193","article-title":"Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: Confirmation of a syndrome","volume":"10","year":"2008","journal-title":"Pediatr Diabetes"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.diabet.2013.03.007","article-title":"SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis","volume":"39","year":"2013","journal-title":"Diabetes Metab"},{"key":"ref71","first-page":"466","article-title":"An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis","volume":"14","year":"2012","journal-title":"Pediatr Diabetes"},{"key":"ref151","first-page":"89","article-title":"Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis","volume":"335","year":"2011","journal-title":"Science"},{"key":"ref11","first-page":"89","article-title":"Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis","volume":"335","year":"2011","journal-title":"Science"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.2340\/00015555-2145","article-title":"H syndrome: a multifaceted histiocytic disorder with hyperpigmentation and hypertrichosis","volume":"95","year":"2015","journal-title":"Acta Dermato Venereologica"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1111\/j.1464-5491.2009.02843.x","article-title":"Diabetes mellitus may be the earliest and sole manifestation of the H syndrome","volume":"26","year":"2009","journal-title":"Diabet Med"},{"key":"ref191","first-page":"43","article-title":"Evaluation of short and tall stature in children","volume":"92","year":"2015","journal-title":"Am Fam Physician"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"e70","DOI":"10.1111\/pde.12085","article-title":"Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation","volume":"30","year":"2013","journal-title":"Pediatr Dermatol"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"2257","DOI":"10.1093\/hmg\/ddp161","article-title":"SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling 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