First Successful Conception Induced by a Male Cystinosis Patient

  • Koenraad R. VeysEmail author
  • Kathleen W. D’Hauwers
  • Angelique J. C. M. van Dongen
  • Mirian C. Janssen
  • Martine T. P. Besouw
  • Ellen Goossens
  • Lambert P. van den Heuvel
  • Alex A. M. M. Wetzels
  • Elena N. Levtchenko
Research Report
Part of the JIMD Reports book series (JIMD, volume 38)


Cystinosis is a rare autosomal recessive lysosomal storage disease characterized by multi-organ cystine accumulation, leading to renal failure and extra-renal organ dysfunction. Azoospermia of unknown origin is the main cause of infertility in all male cystinosis patients. Although spermatogenesis has shown to be intact at the testicular level in some patients, no male cystinosis patient has been reported yet to have successfully induced conception.

We present the first successful conception ever reported, induced by a 27-year-old male renal transplant infantile nephropathic cystinosis patient through percutaneous epididymal sperm aspiration (PESA) followed by intracytoplasmatic sperm injection (ICSI). After 36 weeks and 6 days of an uncomplicated pregnancy, a dichorial diamniotic (DCDA) twin was born with an appropriate weight for gestational age and in an apparently healthy status. Moreover, we demonstrate that the sperm of epididymal origin in selected male cystinosis patients can be viable for inducing successful conception.

Our observation opens a new perspective in life for many male cystinosis patients whom nowadays have become adults, by showing that despite azoospermia fathering a child can be realized. In addition, our findings raise questions about the possibility of sperm cryopreservation at a young age in these patients.


Assisted reproductive technology Azoospermia Cystinosis Male infertility 



We would like to express our gratitude to the treating gynecologist at the regional hospital, Fleurisca Korteweg, for the meticulous follow-up of the pregnancy, to professor emeritus Leo Monnens for carefully revising the manuscript and his particularly appreciated advice, and to the Cystinosis Research Foundation Ireland for funding this research.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Koenraad R. Veys
    • 1
    • 2
    Email author
  • Kathleen W. D’Hauwers
    • 3
  • Angelique J. C. M. van Dongen
    • 4
  • Mirian C. Janssen
    • 5
  • Martine T. P. Besouw
    • 2
  • Ellen Goossens
    • 6
  • Lambert P. van den Heuvel
    • 2
  • Alex A. M. M. Wetzels
    • 7
  • Elena N. Levtchenko
    • 1
    • 2
  1. 1.Department of Pediatric NephrologyUniversity Hospitals LeuvenLeuvenBelgium
  2. 2.Department of Growth and Regeneration, Unit of Organ SystemsKU LeuvenLeuvenBelgium
  3. 3.Department of UrologyRadboud University Medical CenterNijmegenThe Netherlands
  4. 4.Department of GynaecologyRadboud University Medical CenterNijmegenThe Netherlands
  5. 5.Department of Internal Medicine, Unit of Metabolic DiseasesRadboud University Medical CenterNijmegenThe Netherlands
  6. 6.Department of Reproduction, Biology of the Testis, Genetics and Regenerative MedicineVrije Universiteit BrusselBrusselsBelgium
  7. 7.Department of FertilityRadboud University Medical CenterNijmegenThe Netherlands

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