TY - CHAP
T1 - First successful conception induced by a male cystinosis patient
AU - Veys, Koenraad R.
AU - D’Hauwers, Kathleen W.
AU - van Dongen, Angelique J.C.M.
AU - Janssen, Mirian C.
AU - Besouw, Martine T.P.
AU - Goossens, Ellen
AU - van den Heuvel, Lambert P.
AU - Wetzels, Alex A.M.M.
AU - Levtchenko, Elena N.
N1 - Funding Information: K. Veys is funded by the Research Foundation – Flanders (F.W.O. Vlaanderen), grant 11Y5216N. Funding Information: E. Levtchenko is supported by the Research Foundation – Flanders (F.W.O. Vlaanderen), grant 1801110N, the Cystinosis Research Network and Cystinosis Ireland. Funding Information: 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. Publisher Copyright: © 2017, SSIEM and Springer-Verlag Berlin Heidelberg.
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - Assisted reproductive technology
KW - Azoospermia
KW - Cystinosis
KW - Male infertility
UR - http://www.scopus.com/inward/record.url?scp=85044835335&partnerID=8YFLogxK
U2 - https://doi.org/10.1007/8904_2017_19
DO - https://doi.org/10.1007/8904_2017_19
M3 - Chapter
T3 - JIMD Reports
SP - 1
EP - 6
BT - JIMD Reports
PB - Springer
ER -