{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T14:12:46Z","timestamp":1763129566808,"version":"3.45.0"},"reference-count":21,"publisher":"Sociedade Beneficente Israelita Brasileira Hospital Albert Einstein","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,13]]},"DOI":"10.31744\/einstein_journal\/2025rc1539","type":"journal-article","created":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T14:09:51Z","timestamp":1763129391000},"source":"Crossref","is-referenced-by-count":0,"title":["Hypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies"],"prefix":"10.31744","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5461-0301","authenticated-orcid":false,"given":"Rafael Loch","family":"Batista","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7962-8156","authenticated-orcid":false,"given":"Marilena","family":"Nakaguma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8979-8383","authenticated-orcid":false,"given":"Leonardo Andrade Gontijo","family":"Tavares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0383-740X","authenticated-orcid":false,"given":"J\u00falio Am\u00e9rico Pereira","family":"Batatinha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6603-3188","authenticated-orcid":false,"given":"Mirian Yumie","family":"Nishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4883-7630","authenticated-orcid":false,"given":"Sorahia","family":"Domenice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8592-7419","authenticated-orcid":false,"given":"Mario","family":"Padula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1762-1084","authenticated-orcid":false,"given":"Berenice Bilharinho","family":"Mendonca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"16942","reference":[{"issue":"2","key":"key20251114140947_B1","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1002\/ajmg.c.31789","article-title":"Rare sex chromosome variation 48,XXYY: an integrative review","volume":"184","author":"Blumling","year":"2020","unstructured":"1 Blumling AA, Martyn K, Talboy A, Close S. Rare sex chromosome variation 48,XXYY: an integrative review. Am J Med Genet C Semin Med Genet. 2020;184(2):386-403.","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"6","key":"key20251114140947_B2","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1111\/j.1651-2227.2011.02235.x","article-title":"48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome","volume":"100","author":"Tartaglia","year":"2011","unstructured":"2 Tartaglia N, Ayari N, Howell S, D\u2019Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011;100(6):851-60.","journal-title":"Acta Paediatr"},{"issue":"11","key":"key20251114140947_B3","first-page":"1719","article-title":"Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review","volume":"9","author":"Ricciardi","year":"2022","unstructured":"3 Ricciardi G, Cammisa L, Bove R, Picchiotti G, Spaziani M, Isidori AM, et al. Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review. Children (Basel). 2022;9(11):1719.","journal-title":"Children (Basel)"},{"issue":"2","key":"key20251114140947_B4","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s40618-016-0541-6","article-title":"Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism","volume":"40","author":"Bonomi","year":"2017","unstructured":"4 Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini EA, Ferlin A; Klinefelter ItaliaN Group (KING). Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Invest. 2017;40(2):123-34.","journal-title":"J Endocrinol Invest"},{"issue":"3","key":"key20251114140947_B5","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/S1474-4422(13)70302-8","article-title":"Cognitive and neurological aspects of sex chromosome aneuploidies","volume":"13","author":"Hong","year":"2014","unstructured":"5 Hong DS, Reiss AL. Cognitive and neurological aspects of sex chromosome aneuploidies. Lancet Neurol. 2014;13(3):306-18.","journal-title":"Lancet Neurol"},{"key":"key20251114140947_B6","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/B978-0-444-59602-4.00017-4","article-title":"Rathke's cleft cyst","volume":"124","author":"Larkin","year":"2014","unstructured":"6 Larkin S, Karavitaki N, Ansorge O. Rathke's cleft cyst. Handb Clin Neurol. 2014;124:255-69.","journal-title":"Handb Clin Neurol"},{"key":"key20251114140947_B7","doi-asserted-by":"crossref","first-page":"8","DOI":"10.12688\/f1000research.16747.1","article-title":"Recent advances in managing and understanding Klinefelter syndrome","volume":"8","author":"Bearelly","year":"2019;","unstructured":"7 Bearelly P, Oates R. Recent advances in managing and understanding Klinefelter syndrome. F1000 Res. 2019;8:8.","journal-title":"F1000 Res"},{"issue":"2","key":"key20251114140947_B8","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1385\/EP:16:2:133","article-title":"The pituitary in klinefelter syndrome","volume":"16","author":"Scheithauer","year":"2005","unstructured":"8 Scheithauer BW, Moschopulos M, Kovacs K, Jhaveri BS, Percek T, Lloyd RV. The pituitary in klinefelter syndrome. Endocr Pathol. 2005;16(2):133-8.","journal-title":"Endocr Pathol"},{"issue":"4","key":"key20251114140947_B9","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1002\/ccr3.2714","article-title":"Macrogonadotropinoma, a venous thromboembolic event and asymptomatic extensive periventricular white matter changes in a patient with Klinefelter syndrome","volume":"8","author":"Namboodiri","year":"2020","unstructured":"9 Namboodiri D, Ng HY, Zala A, Magnussen J, Davidson A, Champion B, et al. Macrogonadotropinoma, a venous thromboembolic event and asymptomatic extensive periventricular white matter changes in a patient with Klinefelter syndrome. Clin Case Rep. 2020;8(4):675-9.","journal-title":"Clin Case Rep"},{"issue":"1","key":"key20251114140947_B10","doi-asserted-by":"crossref","first-page":"92","DOI":"10.14310\/horm.2002.1723","article-title":"Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst","volume":"16","author":"Uppal","year":"2017","unstructured":"10 Uppal S, Jee YH, Lightbourne M, Han JC, Stratakis CA. Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. Hormones (Athens). 2017;16(1):92-8.","journal-title":"Hormones (Athens)"},{"issue":"4","key":"key20251114140947_B11","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1507\/endocrj.49.523","article-title":"Multiple endocrine disorders and Rathke's cleft cyst with Klinefelter's syndrome: a case report","volume":"49","author":"Gotoh","year":"2002","unstructured":"11 Gotoh M, Nakano J, Midorikawa S, Niimura S, Ono Y, Mizuno K. Multiple endocrine disorders and Rathke's cleft cyst with Klinefelter's syndrome: a case report. Endocr J. 2002;49(4):523-9.","journal-title":"Endocr J"},{"issue":"4","key":"key20251114140947_B12","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1136\/practneurol-2012-000438","article-title":"48, XXYY syndrome associated tremor","volume":"13","author":"Lote","year":"2013","unstructured":"12 Lote H, Fuller GN, Bain PG. 48, XXYY syndrome associated tremor. Pract Neurol. 2013;13(4):249-53.","journal-title":"Pract Neurol"},{"issue":"1","key":"key20251114140947_B13","doi-asserted-by":"crossref","DOI":"10.3171\/2011.5.FOCUS1178","article-title":"Rathke cleft cysts in pediatric patients: presentation, surgical management, and postoperative outcomes","volume":"31","author":"Jahangiri","year":"2011","unstructured":"13 Jahangiri A, Molinaro AM, Tarapore PE, Blevins L Jr, Auguste KI, Gupta N, et al. Rathke cleft cysts in pediatric patients: presentation, surgical management, and postoperative outcomes. Neurosurg Focus. 2011;31(1):E3.","journal-title":"Neurosurg Focus"},{"issue":"8","key":"key20251114140947_B14","first-page":"2144","article-title":"Pituitary cysts in childhood evaluated by MR imaging","volume":"26","author":"Takanashi","year":"2005","unstructured":"14 Takanashi J, Tada H, Barkovich AJ, Saeki N, Kohno Y. Pituitary cysts in childhood evaluated by MR imaging. AJNR Am J Neuroradiol. 2005;26(8):2144-7.","journal-title":"AJNR Am J Neuroradiol"},{"key":"key20251114140947_B15","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.wneu.2024.10.059","article-title":"Rathke Cleft Cysts in Identical Twins","volume":"193","author":"Afshari","year":"2025","unstructured":"15 Afshari FT, Najmi VS, Solanki GA. Rathke Cleft Cysts in Identical Twins. World Neurosurg. 2025;193:102-3.","journal-title":"World Neurosurg"},{"issue":"8","key":"key20251114140947_B16","first-page":"4501","article-title":"Rathke's cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors","volume":"130","author":"Brinkmeier","year":"2020","unstructured":"16 Brinkmeier ML, Bando H, Camarano AC, Fujio S, Yoshimoto K, de Souza FS, et al. Rathke's cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors. J Clin Invest. 2020;130(8):4501-15.","journal-title":"J Clin Invest"},{"issue":"7","key":"key20251114140947_B17","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1038\/ejhg.2008.63","article-title":"The human pseudoautosomal regions: a review for genetic epidemiologists","volume":"16","author":"Flaquer","year":"2008","unstructured":"17 Flaquer A, Rappold GA, Wienker TF, Fischer C. The human pseudoautosomal regions: a review for genetic epidemiologists. Eur J Hum Genet. 2008; 16(7):771-9.","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"key20251114140947_B18","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1009532","article-title":"Evolutionary dynamics of the human pseudoautosomal regions","volume":"17","author":"Monteiro","year":"2021","unstructured":"18 Monteiro B, Arenas M, Prata MJ, Amorim A. Evolutionary dynamics of the human pseudoautosomal regions. PLoS Genet. 2021;17(4):e1009532.","journal-title":"PLoS Genet"},{"issue":"6","key":"key20251114140947_B19","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1242\/dev.125.6.1005","article-title":"Integrated FGF and BMP signaling controls the progression of progenitor cell differentiation and the emergence of pattern in the embryonic anterior pituitary","volume":"125","author":"Ericson","year":"1998","unstructured":"19 Ericson J, Norlin S, Jessell TM, Edlund T. Integrated FGF and BMP signaling controls the progression of progenitor cell differentiation and the emergence of pattern in the embryonic anterior pituitary. Development. 1998;125(6):1005-15.","journal-title":"Development"},{"issue":"8","key":"key20251114140947_B20","doi-asserted-by":"crossref","first-page":"2148","DOI":"10.3390\/cells10082148","article-title":"Functional Roles of FGF Signaling in Early Development of Vertebrate Embryos","volume":"10","author":"Kumar","year":"2021","unstructured":"20 Kumar V, Goutam RS, Park S, Lee U, Kim J. Functional Roles of FGF Signaling in Early Development of Vertebrate Embryos. Cells. 2021;10(8):2148.","journal-title":"Cells"},{"issue":"18","key":"key20251114140947_B21","doi-asserted-by":"crossref","first-page":"5126","DOI":"10.1093\/hmg\/ddv231","article-title":"Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region","volume":"24","author":"Ning","year":"2015","unstructured":"21 Ning Z, McLellan AS, Ball M, Wynne F, O\u2019Neill C, Mills W, et al. Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region. Hum Mol Genet. 2015;24(18):5126-41.","journal-title":"Hum Mol Genet"}],"container-title":["einstein (S\u00e3o Paulo)"],"original-title":[],"language":"en","deposited":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T14:09:55Z","timestamp":1763129395000},"score":1,"resource":{"primary":{"URL":"https:\/\/journal.einstein.br\/article\/hypopituitarism-and-rathkes-cleft-cyst-in-48xxyy-syndrome-new-insights-into-sex-chromosome-aneuploidies\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":21,"alternative-id":["10.31744\/einstein_journal\/2025RC1539"],"URL":"https:\/\/doi.org\/10.31744\/einstein_journal\/2025rc1539","relation":{},"ISSN":["1679-4508","2317-6385"],"issn-type":[{"value":"1679-4508","type":"print"},{"value":"2317-6385","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]},"article-number":"eRC1539"}}