{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:39:59Z","timestamp":1788305999965,"version":"build-2803163510"},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,3,24]],"date-time":"2020-03-24T00:00:00Z","timestamp":1585008000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,3,24]],"date-time":"2020-03-24T00:00:00Z","timestamp":1585008000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Science and Technology Support Program of Shijiazhuang Municipal Science and Technology Bureau","award":["161460683"],"award-info":[{"award-number":["161460683"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Endocr Disord"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>47,XYY is a chromosomal abnormality syndrome that is typically observed in patients with a male phenotype. Few patients with XYY syndrome will have infertility. We here report a case of 46,XY\/47,XYY syndrome diagnosed in a patient with a female phenotype.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>A 15-year-old patient with a female phenotype visited our hospital owing to a chief complaint of short stature as of the age of 6\u2009years. She was diagnosed with dwarf syndrome at the age of 10, but no change was noted after 2\u2009months of growth hormone treatment. The patient\u2019s height was 136\u2009cm and the weight was 29\u2009kg, both of which were below the third percentile for her age\/gender. In addition to short stature, the 4th and 5th metacarpals were short and there was no significant sex development. Karyotype analysis showed 47,XYY, and chromosomal microarray examination showed a chimera of 46,XY\/47,XYY.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>This is an extremely rare case of 47,XYY abnormality in a patient with a female phenotype, with only one such known case reported previously. Since the cause is unknown, and symptoms of this syndrome are highly atypical and variable in childhood, clinicians should be aware of this possibility to avoid misdiagnosis and offer counseling and hormone therapy as needed to patients and their parents to improve their quality of life.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12902-020-0523-8","type":"journal-article","created":{"date-parts":[[2020,3,24]],"date-time":"2020-03-24T10:06:44Z","timestamp":1585044404000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A patient with 46,XY\/47,XYY karyotype and female phenotype: a case report"],"prefix":"10.1186","volume":"20","author":[{"given":"Zhi-Hui","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shi-Chao","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-Wen","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,24]]},"reference":[{"key":"523_CR1","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1136\/adc.80.2.192","volume":"80","author":"S Ratcliffe","year":"1999","unstructured":"Ratcliffe S. Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child. 1999;80:192\u20135.","journal-title":"Arch Dis Child"},{"issue":"2","key":"523_CR2","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1080\/14647273.2017.1353143","volume":"22","author":"P Borjian Boroujeni","year":"2019","unstructured":"Borjian Boroujeni P, Sabbaghian M, Vosough Dizaj A, Zarei Moradi S, Almadani N, Mohammadpour Lashkari F, et al. Clinical aspects of infertile 47,XYY patients: a retrospective study. Hum Fertil (Camb). 2019;22(2):88\u201393.","journal-title":"Hum Fertil (Camb)"},{"key":"523_CR3","first-page":"188","volume":"15","author":"IW Kim","year":"2013","unstructured":"Kim IW, Khadilkar AC, Ko EY, Sabanegh ES Jr. 47,XYY syndrome and male infertility. Rev Urol. 2013;15:188\u201396.","journal-title":"Rev Urol"},{"key":"523_CR4","doi-asserted-by":"publisher","first-page":"72","DOI":"10.14310\/horm.2002.1295","volume":"10","author":"C Zouli","year":"2011","unstructured":"Zouli C, Tsametis C, Papadimas I, Goulis DG. A man with 47, XYY karyotype, prolactinoma and a history of first trimester recurrent miscarriages in his wife. Hormones. 2011;10:72\u20135.","journal-title":"Hormones"},{"issue":"4","key":"523_CR5","doi-asserted-by":"publisher","first-page":"1085","DOI":"10.1016\/j.jpeds.2013.05.037","volume":"163","author":"MZ Bardsley","year":"2013","unstructured":"Bardsley MZ, Kowal K, Levy C, et al. 47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr. 2013;163(4):1085\u201394.","journal-title":"J Pediatr"},{"key":"523_CR6","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1186\/1757-1626-2-28","volume":"2","author":"F El-Dahtory","year":"2009","unstructured":"El-Dahtory F, Elsheikha HM. Male infertility related to an aberrant karyotype, 47,XYY: Four case reports. Cases J. 2009;2:28.","journal-title":"Cases J"},{"key":"523_CR7","first-page":"284","volume":"54","author":"HJ Grace","year":"1978","unstructured":"Grace HJ, Campbell GD. XYY karyotype, female phenotype and gonadal dysgenesis, A case report. S Afr Med J. 1978;54:284\u20136.","journal-title":"S Afr Med J"}],"container-title":["BMC Endocrine Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12902-020-0523-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12902-020-0523-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12902-020-0523-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,24]],"date-time":"2021-03-24T00:10:43Z","timestamp":1616544643000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcendocrdisord.biomedcentral.com\/articles\/10.1186\/s12902-020-0523-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,24]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["523"],"URL":"https:\/\/doi.org\/10.1186\/s12902-020-0523-8","relation":{},"ISSN":["1472-6823"],"issn-type":[{"value":"1472-6823","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,24]]},"assertion":[{"value":"22 October 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 March 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 March 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The study was performed in accordance with the Declaration of Helsinki and was approved by the First Hospital of Shijiazhuang City\u2019s Research and Ethical Committee.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient and parents, including the permission for details and images related to the patient and parents to be published. The patient and parents were informed that the details and images would be freely available on the internet and may be seen by the general public.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"42"}}