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CASE REPORT
Zinner and Mayer-Rokitansky-Küster-Hauser syndromes: when unilateral renal agenesis meets genital anomalies
  1. Filipa Briosa1,
  2. Rita Valsassina1,
  3. Catarina Mira2 and
  4. Ana Zagalo1
  1. 1 Department of Paediatrics, Hospital Beatriz Angelo, Loures, Portugal
  2. 2 Department of Radiology, Hospital Beatriz Angelo, Loures, Portugal
  1. Correspondence to Dr Filipa Briosa, filipabriosaneves{at}gmail.com

Abstract

Congenital unilateral renal agenesis is a relatively frequent condition at birth diagnosed mostly incidentally. Despite the excellent prognosis, unilateral renal agenesis is associated with an increased risk of other structural abnormalities, including genital malformations. The authors present two cases of asymptomatic adolescents with known congenital unilateral renal agenesis and associated genital malformations solely diagnosed during puberty—a man with Zinner syndrome and a female with Mayer-Rokitansky-Küster-Hauser syndrome.

  • paediatrics
  • congenital disorders
  • infant health
  • radiology
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Footnotes

  • Contributors FB and RV wrote and designed the primary manuscript. CM described the figure captions. AZ was responsible for the critical revision and the approval of the final version.

  • 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.

  • Competing interests None declared.

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

  • Patient consent for publication Obtained.

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