Klinefelter syndrome presenting with perinatal ascites associated with unilateral renal agenesis and a prostatic utricle cyst
- 21 January 2022
- journal article
- research article
- Published by BMJ in BMJ Case Reports
- Vol. 15 (1), e246955
- https://doi.org/10.1136/bcr-2021-246955
Abstract
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 17×21×27 mm located inferior–posterior 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.This publication has 11 references indexed in Scilit:
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