title: First Successful Conception Induced by a Male Cystinosis Patient.
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.
authors.affiliation: Department of Pediatric Nephrology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium. koenraad.veys@uzleuven.be.|Department of Growth and Regeneration, Unit of Organ Systems, KU Leuven, Herestraat 49, 3000, Leuven, Belgium. koenraad.veys@uzleuven.be.
authors.forename: Koenraad R
authors.initials: KR
authors.lastname: Veys
authors.affiliation: Department of Urology, Radboud University Medical Center, Philips van Leydenlaan 15, 6562 EX, Nijmegen, The Netherlands.
authors.forename: Kathleen W
authors.initials: KW
authors.lastname: D'Hauwers
authors.affiliation: Department of Gynaecology, Radboud University Medical Center, Philips van Leydenlaan 15, 6562 EX, Nijmegen, The Netherlands.
authors.forename: Angelique J C M
authors.initials: AJCM
authors.lastname: van Dongen
authors.affiliation: Department of Internal Medicine, Unit of Metabolic Diseases, Radboud University Medical Center, Philips van Leydenlaan 15, 6562 EX, Nijmegen, The Netherlands.
authors.forename: Mirian C
authors.initials: MC
authors.lastname: Janssen
authors.affiliation: Department of Growth and Regeneration, Unit of Organ Systems, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
authors.forename: Martine T P
authors.initials: MTP
authors.lastname: Besouw
authors.affiliation: Department of Reproduction, Biology of the Testis, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090, Brussels, Belgium.
authors.forename: Ellen
authors.initials: E
authors.lastname: Goossens
authors.affiliation: Department of Growth and Regeneration, Unit of Organ Systems, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
authors.forename: Lambert P
authors.initials: LP
authors.lastname: van den Heuvel
authors.affiliation: Department of Fertility, Radboud University Medical Center, Philips van Leydenlaan 15, 6562 EX, Nijmegen, The Netherlands.
authors.forename: Alex A M M
authors.initials: AAMM
authors.lastname: Wetzels
authors.affiliation: Department of Pediatric Nephrology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.|Department of Growth and Regeneration, Unit of Organ Systems, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
authors.forename: Elena N
authors.initials: EN
authors.lastname: Levtchenko
keywords: Assisted reproductive technology; Azoospermia; Cystinosis; Male infertility