{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T16:45:41Z","timestamp":1791909941513,"version":"4.3.4"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,12,14]],"date-time":"2023-12-14T00:00:00Z","timestamp":1702512000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,12,14]],"date-time":"2023-12-14T00:00:00Z","timestamp":1702512000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Endocr Disord"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The nucleoside transport capabilities of the human equilibrative nucleoside transporter-3 (hENT3) are disrupted by mutations in SLC29A3 (10q22.2), which are genes for the nucleoside transporter and are the cause of the unusual autosomal recessive disease known as H syndrome. As a result, histiocytic cells invade a number of organs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A 17-year-old Syrian male was admitted to the internal medicine department with a one-month history of polyuria, polydipsia, general weakness, and pallor. He had a history of progressive bilateral sensorineural hearing loss and failure to gain weight for three years. Physical examination revealed various abnormalities, including scrotal mass, small penis and testicles, absence of pubic and axillary hair, joint abnormalities, short stature, hallux valgus, fibrous protrusion near the navel, and hyperpigmented non-itchy painful skin plaques. Clinical signs along with laboratory test results confirmed hyperglycemia, primary hypogonadism, osteopenia, and growth hormone deficiency. After a review of the relevant medical literature, this patient\u2019s presentation of hyperglycemia with hypogonadism, hyperpigmentation, hallux valgus, hearing loss, hematological abnormalities, and short stature suggested the diagnosis of H syndrome. The patient received treatment with insulin and testosterone, leading to a significant improvement in his presenting symptoms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>H syndrome is a very rare condition, and the fact that the first case has only recently been reported in Syria serves to emphasize how rare it is. H Syndrome should be suspected if a patient has short stature with signs of hyperglycemia and other endocrine and cutaneous abnormalities. We are reporting this case to increase physicians\u2019 awareness of this exceedingly rare and unique syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12902-023-01525-w","type":"journal-article","created":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T22:02:32Z","timestamp":1702504952000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H syndrome: the first case report from Syria"],"prefix":"10.1186","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-0994-1829","authenticated-orcid":false,"given":"Suaad","family":"Hamsho","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8592-0898","authenticated-orcid":false,"given":"Mohammed","family":"Alaswad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mouhammed","family":"Sleiay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1467-9186","authenticated-orcid":false,"given":"Ayham","family":"Alhusseini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,12,14]]},"reference":[{"key":"1525_CR1","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1016\/j.ajhg.2008.09.013","volume":"83","author":"V Molho-Pessach","year":"2008","unstructured":"Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, et al. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet. 2008;83:529\u201334.","journal-title":"Am J Hum Genet"},{"key":"1525_CR2","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.jaad.2008.03.021","volume":"59","author":"V Molho-Pessach","year":"2008","unstructured":"Molho-Pessach V, Agha Z, Aamar S, Glaser B, Doviner V, Hiller N, et al. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol. 2008;59:79\u201385.","journal-title":"J Am Acad Dermatol"},{"key":"1525_CR3","doi-asserted-by":"publisher","first-page":"e1308","DOI":"10.1542\/peds.2012-2255","volume":"131","author":"I Melki","year":"2013","unstructured":"Melki I, Lambot K, Jonard L, Couloigner V, Quartier P, Neven B, et al. Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition. Pediatrics. 2013;131:e1308\u201313. https:\/\/doi.org\/10.1542\/peds.2012-2255.","journal-title":"Pediatrics"},{"key":"1525_CR4","doi-asserted-by":"publisher","first-page":"300","DOI":"10.4103\/idoj.IDOJ_187_18","volume":"10","author":"P Yesudian","year":"2019","unstructured":"Yesudian P, Sarveswari KN, Karrunya KJ, Thomas K. H syndrome - a case report. Indian Dermatol Online J. 2019;10:300\u20132.","journal-title":"Indian Dermatol Online J"},{"key":"1525_CR5","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.jdcr.2019.02.003","volume":"5","author":"KI Al-Hamadi","year":"2019","unstructured":"Al-Hamadi KI, Ismael DK, Saadoon AQ. H syndrome with possible new phenotypes. JAAD Case Rep. 2019;5:355\u20137.","journal-title":"JAAD Case Rep"},{"key":"1525_CR6","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1111\/ajd.12968","volume":"60","author":"X Wang","year":"2019","unstructured":"Wang X, Sun J. Skin-limited H syndrome in a Chinese man. Australas J Dermatol. 2019;60:243\u20135.","journal-title":"Australas J Dermatol"},{"key":"1525_CR7","doi-asserted-by":"publisher","first-page":"e65","DOI":"10.4158\/EP15762.CR","volume":"2","author":"MD Mruthyunjaya","year":"2015","unstructured":"Mruthyunjaya MD, Chapla AC, Shetty S, et al. The H syndrome: molecular diagnosis using next generation sequencing. AACE Clin Case Rep. 2015;2:e65\u20139.","journal-title":"AACE Clin Case Rep"},{"issue":"1","key":"1525_CR8","doi-asserted-by":"publisher","first-page":"76","DOI":"10.4103\/ijd.IJD_264_17","volume":"63","author":"M Dilip","year":"2018","unstructured":"Dilip M, Chauhan P, Hazarika N, Kumar Kansal N, Syndrome \u201cH. A Case Report and Review of Literature. Indian J Dermatology. 2018;63(1):76\u20138. https:\/\/doi.org\/10.4103\/ijd.IJD_264_17. PMC 5838761. PMID 29527032.","journal-title":"Indian J Dermatology"},{"issue":"7","key":"1525_CR9","doi-asserted-by":"publisher","first-page":"820","DOI":"10.1111\/j.1365-4632.2012.05838.x","volume":"52","author":"S Mohanan","year":"2013","unstructured":"Mohanan S, Chandrashekar L, Semple RK, Thappa DM, Rajesh NG, Negi VS, Gulati R. H syndrome with a novel homozygous R134C mutation in SLC29A3 gene. Int J Dermatol. 2013;52(7):820\u20133.","journal-title":"Int J Dermatol"},{"key":"1525_CR10","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/j.jaad.2013.09.019","volume":"70","author":"V Molho-Pessach","year":"2014","unstructured":"Molho-Pessach V, Ramot Y, Camille F, et al. The H syndrome: the first 79 patients. J Am Acad Dermatol. 2014;70:80\u20138.","journal-title":"J Am Acad Dermatol"},{"key":"1525_CR11","doi-asserted-by":"publisher","first-page":"2257","DOI":"10.1093\/hmg\/ddp161","volume":"18","author":"ST Cliffe","year":"2009","unstructured":"Cliffe ST, Kramer JM, Hussain K, et al. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent Diabetes Mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet. 2009;18:2257\u201365.","journal-title":"Hum Mol Genet"},{"key":"1525_CR12","first-page":"7965","volume":"6","author":"M Razmyar","year":"2018","unstructured":"Razmyar M, Rezaieyazdi Z, Tayebi Meibodi N, Fazel Z, Layegh P. H syndrome masquerade as rheumatologic Disease. Int J Pediatr. 2018;6:7965\u201371.","journal-title":"Int J Pediatr"}],"container-title":["BMC Endocrine Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12902-023-01525-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12902-023-01525-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12902-023-01525-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T22:03:24Z","timestamp":1702505004000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcendocrdisord.biomedcentral.com\/articles\/10.1186\/s12902-023-01525-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,14]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["1525"],"URL":"https:\/\/doi.org\/10.1186\/s12902-023-01525-w","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-3362111\/v1","asserted-by":"object"}]},"ISSN":["1472-6823"],"issn-type":[{"value":"1472-6823","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,14]]},"assertion":[{"value":"17 September 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 December 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 December 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s parents for the publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"274"}}