{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T06:39:38Z","timestamp":1780555178105,"version":"3.54.1"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,12,30]],"date-time":"2021-12-30T00:00:00Z","timestamp":1640822400000},"content-version":"vor","delay-in-days":29,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>49XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000\u2013100,000 male births. Worldwide, around 100 cases have been reported. In this report, we describe one such case seen in Sri Lanka.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 10-day-old Sri Lankan neonate born in a tertiary care center was referred to the pediatric endocrinology unit of Lady Ridgeway Hospital due to detection of ambiguous genitalia at birth. He was the first child born to nonconsanguineous healthy parents following\u00a0an uncomplicated antenatal period.\u00a0He was born at term via normal vaginal delivery, with a birth weight of 2.385\u00a0kg. The baby was active, and there was no documented\u00a0hypoglycemia or alteration in basic biochemical investigations. On\u00a0examination, the child had hypertelorism, upslanting palpebral fissures, flat occiput, and mild webbing of the neck. System examination was normal. Genitalia examination revealed bifid scrotum, perineal urethra, 2\u00a0cm phallus, and bilateral testis <jats:italic>in situ<\/jats:italic>. Hormonal analysis,\u00a0including dehydroepiandrosterone sulfate, testosterone, and 17-OH progesterone levels, was normal except for an elevated level of follicle-stimulating hormone, indicating gonadal dysgenesis. Ultrasound of the abdomen detected testis located at bilateral inguinal canal, and no M\u00fcllerian structures were visible. Echocardiography showed a small patent foramen ovale with otherwise normal heart. Chromosome analysis revealed 49XXXXY syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>49XXXXY syndrome should be entertained as a rare possibility for\u00a0ambiguous genitalia, and karyotyping is an essential investigation for evaluation of such patients.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-021-03188-4","type":"journal-article","created":{"date-parts":[[2021,12,30]],"date-time":"2021-12-30T00:02:47Z","timestamp":1640822567000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["An infant with 49XXXXY syndrome: a case report"],"prefix":"10.1186","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8196-2089","authenticated-orcid":false,"given":"N. P. G. C. R.","family":"Naotunna","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Liyanage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Atapattu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,12,30]]},"reference":[{"key":"3188_CR1","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1016\/S0140-6736(60)91963-2","volume":"2","author":"M Fraccaro","year":"1960","unstructured":"Fraccaro M, Kaijser K, Lindsten GJA. Child with 49 chromosomes. Lancet. 1960;2:899\u2013902.","journal-title":"Lancet"},{"issue":"6","key":"3188_CR2","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1111\/j.1651-2227.2011.02235.x","volume":"100","author":"N Tartaglia","year":"2011","unstructured":"Tartaglia N, Ayari N, Howell S, et\u00a0al. 48, XXYY, 48, XXXY and 49, XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011;100(6):851\u201360.","journal-title":"Acta Paediatr"},{"key":"3188_CR3","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1007\/BF00201605","volume":"94","author":"CA Leal","year":"1994","unstructured":"Leal CA, Belmont JW, Nachtman R, Cantu JM, Medina C. Parental origin of the extra chromosomes in polysomy X. Hum Genet. 1994;94:423\u20136.","journal-title":"Hum Genet"},{"key":"3188_CR4","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1007\/BF00193591","volume":"85","author":"T Hassold","year":"1990","unstructured":"Hassold T, Pettay D, May K, Robinson A. Analysis of non-disjunction in sex chromosome tetrasomy and penta-somy. Hum Genet. 1990;85:648\u201350.","journal-title":"Hum Genet"},{"key":"3188_CR5","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1542\/peds.56.3.462","volume":"56","author":"R Karsh","year":"1975","unstructured":"Karsh R, Knapp R, Nora J, et\u00a0al. Congenital heart disease in 49 XXXXY Syndrome. Pediatrics. 1975;56:462\u20134.","journal-title":"Pediatrics"},{"key":"3188_CR6","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1136\/jmg.28.9.609","volume":"28","author":"CA Lomelino","year":"1991","unstructured":"Lomelino CA, Reiss AL. 49, XXXXY syndrome: behavioral and developmental profiles. J Med Genet. 1991;28:609\u201312.","journal-title":"J Med Genet"},{"issue":"10","key":"3188_CR7","doi-asserted-by":"publisher","first-page":"e13771","DOI":"10.1111\/and.13771","volume":"52","author":"MB Hammami","year":"2020","unstructured":"Hammami MB, Elkhapery A. Sexual and developmental aspects of 49 XXXXY Syndrome: a case report. Andrologia. 2020;52(10):e13771.","journal-title":"Andrologia"},{"issue":"3","key":"3188_CR8","first-page":"181","volume":"13","author":"K Etemadi","year":"2015","unstructured":"Etemadi K, Basir B, Ghahremani S. Case report: neonatal diagnosis of 49, xxxxy syndrome International. Int J Reprod Biomed. 2015;13(3):181\u20133.","journal-title":"Int J Reprod Biomed"},{"key":"3188_CR9","first-page":"14","volume":"65","author":"HJ Kim","year":"2006","unstructured":"Kim HJ, Kim D, Shin JM, et\u00a0al. 49, XXXXY syndrome with Diabetes Mellitus. Horm Res. 2006;65:14\u20137.","journal-title":"Horm Res"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-03188-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-021-03188-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-03188-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,30]],"date-time":"2021-12-30T00:02:51Z","timestamp":1640822571000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-021-03188-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["3188"],"URL":"https:\/\/doi.org\/10.1186\/s13256-021-03188-4","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12]]},"assertion":[{"value":"24 August 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 November 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 December 2021","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 legal guardian for 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 that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"630"}}