Abstract
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.
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Acknowledgements
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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Communicated by: Robin Lachmann, PhD FRCP
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Take-Home Message
The first successful conception induced by a male cystinosis patient, whom are known to have azoospermia of unknown origin, introduces the dawn of a new era for all patients with this previously fatal metabolic disease.
Details of the Contributions of Individual Authors
The Abstract, Introduction, and Discussion sections were drafted by K. Veys and carefully revised by M. Besouw, E. Goossens, B. van den Heuvel, and E. Levtchenko. The Case Report section was drafted by K. D’Hauwers, A. Van Dongen, M. Janssen, and A. Wetzels, and revised by E. Goossens. Sequencing of the CTNS mutation of the reported patient was performed by B. van den Heuvel. The urologic procedures (PESA) in the reported patient were performed by K. D’Hauwers. The fertilization procedures were coordinated by A. Wetzels. The follow-up of the pregnancy and delivery were managed by A. Van Dongen. M. Janssen and E. Levtchenko are the treating physicians of the cystinosis patient.
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None to declare.
Details of Funding
E. Levtchenko is supported by the Research Foundation – Flanders (F.W.O. Vlaanderen), grant 1801110N, the Cystinosis Research Network and Cystinosis Ireland.
K. Veys is funded by the Research Foundation – Flanders (F.W.O. Vlaanderen), grant 11Y5216N.
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The procedure was performed as part of regular patient care.
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Veys, K.R. et al. (2017). First Successful Conception Induced by a Male Cystinosis Patient. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 38. JIMD Reports, vol 38. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_19
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DOI: https://doi.org/10.1007/8904_2017_19
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