Department of Plastic, Reconstructive, and Aesthetic Surgery, Akdeniz University School of Medicine, Antalya, Turkey; Tissue Typing and Transplantation Laboratory, Akdeniz University Hospital, Antalya, Turkey; Department of Medical Genetics, Akdeniz University School of Medicine, Antalya, Turkey.
Department of Medical Genetics, Akdeniz University School of Medicine, Antalya, Turkey.
J Gynecol Obstet Hum Reprod. 2022 Nov;51(9):102467. doi: 10.1016/j.jogoh.2022.102467. Epub 2022 Aug 28.
Chromosomal changes are an important cause of reproductive disorders. This study investigated the chromosomal changes and prevalence of pathologies in individuals admitted to our Genetic Evaluation Center over a 10-year period due to a reproductive disorder.
MATERIALS & METHODS: The chromosomal findings of 4345 individuals with reproductive disorders who applied to our Genetic Evaluation Center at Akdeniz University in Antalya, Turkey between 2011 and 2021 were retrospectively evaluated.
In this study, an abnormal karyotype was found in a total of 138 individuals (87 males and 51 females). Although the incidence of this abnormal karyotype varied among the diseases in the reproductive disorder subgroups, it was most frequently seen in azoospermia (17.0%). Of the 138 abnormalities, 75 were numerical and 54 were structural. The remaining 9 abnormalities consisted of 6 sex reversals and 3 patients with both numerical and structural anomalies. Additionally, the X chromosome was the chromosome most frequently involved in these abnormalities, being observed in 40.6% of patients.
This 10-year, single-center study involved one of the largest case series in the literature to investigate the subtypes of reproductive disorders and their chromosomal relationship. Although the importance of chromosome analysis has been deemphasized, it is still recommended for use by the guidelines and, as the results of this study demonstrate, is still a highly effective method in the investigation of reproductive disorders. Furthermore, chromosome analysis of individuals diagnosed with a reproductive disorder is also very important in the practice of the increasingly utilized preimplantation genetic diagnosis (PGD).
染色体改变是生殖障碍的一个重要原因。本研究调查了 10 年来因生殖障碍而在我们的遗传评估中心就诊的个体的染色体改变和病变患病率。
回顾性评估了 2011 年至 2021 年期间在土耳其安塔利亚阿克登大学遗传评估中心就诊的 4345 名生殖障碍患者的染色体检查结果。
本研究共发现 138 例（男性 87 例，女性 51 例）异常核型。尽管生殖障碍亚组疾病中这种异常核型的发生率不同，但在无精子症中最为常见（17.0%）。在 138 例异常中，75 例为数目异常，54 例为结构异常。其余 9 例异常包括 6 例性别反转和 3 例既有数目异常又有结构异常的患者。此外，X 染色体是这些异常中最常涉及的染色体，在 40.6%的患者中观察到。
这是一项为期 10 年的单中心研究，涉及文献中最大的生殖障碍亚类和染色体关系病例系列之一。尽管染色体分析的重要性已经被淡化，但指南仍建议使用该方法，正如本研究结果所示，它仍然是生殖障碍研究的一种非常有效的方法。此外，对诊断为生殖障碍的个体进行染色体分析在日益广泛应用的植入前遗传学诊断（PGD）实践中也非常重要。
