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Impaired reproductive function and fertility preservation in a woman with a dyskeratosis congenita

  • Fertility Preservation
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Abstract

Purpose

To determine the impact of accelerated telomere shortening on the fertility parameters and treatment outcomes of a woman with dyskeratosis congenita (DKC).

Methods

A case study of the clinical data, blood, discarded oocytes, and arrested embryos of a woman with DKC and donated cryopreserved embryos from unaffected patients. Mean telomere length in blood cells was analyzed by flow cytometry–fluorescence in situ hybridization (flow-FISH) and qPCR. The load of short telomeres in blood cells was measured by universal single telomere length analysis (Universal STELA). The mean telomere length in embryos was analyzed by single-cell amplification of telomere repeats (SCATR) PCR.

Results

Comparison of clinical parameters revealed that the DKC patient had reduced anti-Mullerian hormone (0.3 vs 4.1 ± 5.7 ng/ML), reduced oocytes retrieved (7 vs 18.5 ± 9.5), reduced fertilization rate, and reduced euploidy rate relative to unaffected patients. Additionally, mean telomere length in DKC embryos were shorter than unaffected embryos. However, hormone treatment led to increased leukocyte telomere length, while the load of short telomeres was also shown to decrease during the course of treatment.

Conclusions

We demonstrate for the first time the direct detrimental impacts of short telomeres on female fertility. We further demonstrate positive effects of hormone treatments for people with telomere disorders.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, New York University Langone Health, 550 First Avenue, NBV-9N1A, New York, NY, 10016, USA

    LeRoy G. Robinson Jr, Ricardo Pimentel, Fang Wang, Damla C. Gonullu & David L. Keefe

  2. New York University Langone Fertility Center, New York, NY, USA

    Yael G. Kramer, David McCulloh & David L. Keefe

  3. Children’s Hospital, Boston, MA, USA

    Suneet Agarwal

  4. Department of Obstetrics and Gynecology, University of Sao Paulo, Ribeirao Preto, Brazil

    Paula A. Navarro

Authors
  1. LeRoy G. Robinson Jr
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  2. Ricardo Pimentel
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  3. Fang Wang
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  4. Yael G. Kramer
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  5. Damla C. Gonullu
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  6. Suneet Agarwal
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  7. Paula A. Navarro
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  8. David McCulloh
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  9. David L. Keefe
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Correspondence to David L. Keefe.

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Robinson, L.G., Pimentel, R., Wang, F. et al. Impaired reproductive function and fertility preservation in a woman with a dyskeratosis congenita. J Assist Reprod Genet 37, 1221–1225 (2020). https://doi.org/10.1007/s10815-020-01758-x

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  • DOI: https://doi.org/10.1007/s10815-020-01758-x

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