Shared genetics between nonobstructive azoospermia and primary ovarian insufficiency.
Shared genetics between nonobstructive azoospermia and primary ovarian insufficiency.
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DOI：
10.1016/j.xfnr.2021.04.001
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发表时间：
2021-07
期刊：
影响因子：
--
通讯作者：
Welt, Corrine
中科院分区：
文献类型：
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作者：
Verrilli, Lauren;Johnstone, Erica;Allen-Brady, Kristina;Welt, Corrine
原发性卵巢功能不全（POI）和非梗阻性无精子症（NOA）都代表早期的疾病状态，通常是完全的配子发生失败。由于卵子发生和精子发生在减数分裂I中共享相同的保守步骤，因此减数分裂I中的遗传缺陷可能导致POI和NOA的共同原因。目前，已知的基因，有助于POI和NOA是有限的。在这篇综述文章中，我们对POI和NOA表型同时存在的基因突变进行了系统的综述。从2000年1月1日至2020年10月进行了PubMed文献综述。我们纳入了所有证明人类POI或NOA病例的研究，这些病例是由于同一家族或不同家族中的特定基因突变引起的。我们确定了33篇论文，其中包括10个感兴趣的基因与突变涉及NOA和POI。这些基因都参与了减数分裂Ⅰ的过程。参与减数分裂I过程的基因突变可能导致NOA和POI。在共享基因型中识别这些独特的表型导致生物学上的一致性，即关键错误发生在配子发生的早期，其病因在雄性和雌性后代中共享。从临床的角度来看，这种共同的关系可能有助于我们更好地了解和识别家庭中性腺衰竭高风险的个体，并建议临床医生在接近POI或NOA的新诊断时获得异性家庭成员的病史。
Primary ovarian insufficiency (POI) and Non-obstructive azoospermia (NOA) both represent disease states of early, and often complete, failure of gametogenesis. Because oogenesis and spermatogenesis share the same conserved steps in meiosis I, it is possible that inherited defects in meiosis I could lead to shared causes of both POI and NOA. Currently, known genes that contribute to both POI and NOA are limited. In this review article, we provide a systematic review of genetic mutations in which both POI and NOA phenotypes exist. A PubMed literature review was conducted from January 1, 2000 through October 2020. We included all studies that demonstrated human cases of POI or NOA due to a specific genetic mutation either within the same family or in separate families. We identified 33 papers that encompassed 10 genes of interest with mutations implicated in both NOA and POI. The genes were all involved in processes of meiosis I. Mutations in genes involved in processes of meiosis I may cause both NOA and POI. Identifying these unique phenotypes among shared genotypes leads to biologic plausibility that the key error occurs early in gametogenesis with an etiology shared among both male and female offspring. From a clinical standpoint, this shared relationship may help us better understand and identify individuals at high risk for gonadal failure within families and suggests that clinicians obtain history for opposite sex family members when approaching a new diagnosis of POI or NOA.
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影响因子：
14.9
作者：
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通讯作者：
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