{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:02:36Z","timestamp":1756339356307,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,12,30]]},"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>We present a rare case of Klinefelter syndrome who presented with perinatal ascites, unilateral renal agenesis and a prostatic utricle cyst. The patient was born at term via emergency Caesarean section with gross abdominal distension. Antenatally, amniocentesis revealed a fetal karyotype of Klinefelter syndrome (47, XXY), and the 34-week ultrasound scan showed a cyst measuring 17\u00d721\u00d727\u2009mm located inferior\u2013posterior to the bladder. There was no ascites noted then, but a small left pelvic kidney was present. Ultrasound kidney, ureter and bladder as well as CT scan of the thorax, abdomen and pelvis done at birth showed a solitary right kidney with large-volume ascites and no evidence of a cyst adjacent to the bladder. These findings suggest urinary ascites from an involuting left renal system or a ruptured prostatic utricle cyst. We report the first case of Klinefelter syndrome associated with a prostatic utricle cyst and unilateral renal agenesis, presenting with neonatal ascites.<\/jats:p>","DOI":"10.1136\/bcr-2021-246955","type":"journal-article","created":{"date-parts":[[2022,1,21]],"date-time":"2022-01-21T10:21:02Z","timestamp":1642760462000},"page":"e246955","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Klinefelter syndrome presenting with perinatal ascites associated with unilateral renal agenesis and a prostatic utricle cyst"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7134-974X","authenticated-orcid":false,"given":"Xuxin","family":"Lim","sequence":"first","affiliation":[{"name":"Paediatric Surgery, KK Women's and Children's Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rambha","family":"Rai","sequence":"additional","affiliation":[{"name":"Paediatric Surgery, KK Women's and Children's Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5961-7441","authenticated-orcid":false,"given":"Suresh","family":"Chandran","sequence":"additional","affiliation":[{"name":"Neonatology, KK Women's and Children's Hospital, Singapore"},{"name":"Duke-NUS Medical School, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anette Sundfor","family":"Jacobsen","sequence":"additional","affiliation":[{"name":"Paediatric Surgery, KK Women's and Children's Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,1,21]]},"reference":[{"doi-asserted-by":"publisher","key":"2025082623514571000_15.1.e246955.1","DOI":"10.1038\/ncpuro0775"},{"key":"2025082623514571000_15.1.e246955.2","article-title":"Prostatic utricle cyst: a clinical dilemma","volume":"4","author":"Priyadarshi","year":"2013","journal-title":"APSP J Case Rep"},{"key":"2025082623514571000_15.1.e246955.3","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ijscr.2015.03.024","article-title":"Robotic-assisted surgery for excision of an enlarged prostatic utricle","volume":"10","author":"Goruppi","year":"2015","journal-title":"Int J Surg Case Rep"},{"key":"2025082623514571000_15.1.e246955.4","doi-asserted-by":"crossref","DOI":"10.1186\/s12894-019-0450-z","article-title":"Prostatic utricles without external genital anomalies in children: our experience, literature review, and pooling analysis","volume":"19","author":"Liu","year":"2019","journal-title":"BMC Urol"},{"key":"2025082623514571000_15.1.e246955.5","doi-asserted-by":"crossref","first-page":"129","DOI":"10.4103\/0974-7796.110016","article-title":"An abnormally large prostatic utricle cyst associated with unilateral renal 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