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.

中文翻译：

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先天性角化病女性的生殖功能和生育能力受损。

目的确定加速端粒缩短对先天性角化病女性的生育能力参数和治疗结果的影响。方法对一名患有DKC的妇女的临床数据，血液，丢弃的卵母细胞和被捕的胚胎以及未受影响的患者捐赠的冷冻保存的胚胎进行案例研究。通过流式细胞术-荧光原位杂交（flow-FISH）和qPCR分析血细胞中的平均端粒长度。通过通用单端粒长度分析（Universal STELA）测量血细胞中短端粒的负荷。通过端粒重复序列（SCATR）PCR的单细胞扩增分析了胚胎中端粒的平均长度。结果临床参数比较表明，DKC患者的抗Mullerian激素减少（0.3 vs 4.1±5.7 ng / ML），回收的卵母细胞减少（7 vs 18）。5±9.5），相对于未受影响的患者，受精率降低，整倍体率降低。另外，DKC胚胎中的平均端粒长度比未受影响的胚胎短。然而，激素治疗导致白细胞端粒长度增加，而短端粒的负荷也显示在治疗过程中减少。结论我们首次证明了短端粒对女性生育能力的直接有害影响。我们进一步证明了激素治疗对端粒疾病患者的积极作用。而短端粒的负荷也显示在治疗过程中减少。结论我们首次证明了短端粒对女性生育能力的直接有害影响。我们进一步证明了激素治疗对端粒疾病患者的积极作用。而短端粒的负荷也显示在治疗过程中减少。结论我们首次证明了短端粒对女性生育能力的直接有害影响。我们进一步证明了激素治疗对端粒疾病患者的积极作用。