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Case Reports
Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis
  1. Joe Leigh Simpson*,
  2. Raju S K Chaganti††‡,
  3. Janet Mouradian††,
  4. James German††‡
  1. *The Department of Obstetrics and Gynecology, Section of Human Genetics, Northwestern University, Chicago, Illinois
  2. †Department of Pathology, Cornell Medical College, New York
  3. †Department of Pediatrics, Cornell Medical College, New York
  4. ‡Laboratory of Human Genetics, The New York Blood Center, New York, USA

    Abstract

    A patient with XY gonadal dysgenesis and gonadoblastoma showed myotonic dystrophy and chronic renal disease of unknown aetiology. The coexistence of renal disease and XY gonadal dysgenesis in this and two other subjects suggests a presently obscure aetiological relationship between the phenomena.

    https://doi.org/10.1136/jmg.19.1.73

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