Chapter title |
First Successful Conception Induced by a Male Cystinosis Patient
|
---|---|
Chapter number | 19 |
Book title |
JIMD Reports, Volume 38
|
Published in |
JIMD Reports, January 2017
|
DOI | 10.1007/8904_2017_19 |
Pubmed ID | |
Book ISBNs |
978-3-66-256609-1, 978-3-66-256610-7
|
Authors |
Koenraad R. Veys, 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, Veys, Koenraad R., D’Hauwers, Kathleen W., van Dongen, Angelique J. C. M., Janssen, Mirian C., Besouw, Martine T. P., Goossens, Ellen, van den Heuvel, Lambert P., Wetzels, Alex A. M. M., Levtchenko, Elena N., Dongen, Angelique J. C. M., Heuvel, Lambert P. |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 2 | 29% |
Unknown | 5 | 71% |
Demographic breakdown
Type | Count | As % |
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Practitioners (doctors, other healthcare professionals) | 3 | 43% |
Science communicators (journalists, bloggers, editors) | 2 | 29% |
Scientists | 1 | 14% |
Unknown | 1 | 14% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 23 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 5 | 22% |
Researcher | 4 | 17% |
Other | 3 | 13% |
Student > Ph. D. Student | 3 | 13% |
Student > Master | 2 | 9% |
Other | 0 | 0% |
Unknown | 6 | 26% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 10 | 43% |
Biochemistry, Genetics and Molecular Biology | 3 | 13% |
Psychology | 2 | 9% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
Engineering | 1 | 4% |
Other | 0 | 0% |
Unknown | 6 | 26% |