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Case report
Klinefelter syndrome presenting with perinatal ascites associated with unilateral renal agenesis and a prostatic utricle cyst
  1. Xuxin Lim1,
  2. Rambha Rai1,
  3. Suresh Chandran2,3 and
  4. Anette Sundfor Jacobsen1
  1. 1Paediatric Surgery, KK Women's and Children's Hospital, Singapore
  2. 2Neonatology, KK Women's and Children's Hospital, Singapore
  3. 3Duke-NUS Medical School, Singapore
  1. Correspondence to Dr Xuxin Lim; lim.xuxin{at}gmail.com

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.

  • paediatric surgery
  • urological surgery
  • prostate
  • congenital disorders
  • neonatal health

https://doi.org/10.1136/bcr-2021-246955

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    Footnotes

    • Contributors XL contributed to the literature review, drafting and critical revision of the final manuscript. RR contributed to conception and critical revision of the final manuscript. SC contributed to the conception and critical revision of the final manuscript. ASJ contributed to the conception and critical revision of the final manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.