PDF(Pubmed)
Abstract：
BACKGROUND: Differences in Sex Development (DSD) is a heterogeneous group of congenital alterations that affect inner and/or outer primary sex characters. Although these conditions do not represent a mortality risk, they can have a severe psycho-emotional impact if not appropriately managed. The genetic changes that can give rise to DSD are diverse, from chromosomal alterations to single base variants involved in the sexual development network. Epidemiological studies about DSD indicate a global frequency of 1:4500-5500, which can increase to 1:200-300, including isolated anatomical defects. To our knowledge, this study is the first to describe epidemiological and genetic features of DSD in a cohort of Mexican patients of a third-level care hospital.
METHODS: Descriptive and retrospective cross-sectional study that analyzed DSD patients from 2015 to 2021 attended a Paediatric Hospital from Mexico City.
RESULTS: One hundred one patients diagnosed with DSD were registered and grouped into different entities according to the Chicago consensus statement and the diagnosis defined by the multidisciplinary group. Of the total, 54% of them belong to the chromosomal DSD classification, 16% belongs to 46, XX and 30% of them belongs to the 46, XY classification.
CONCLUSIONS: The frequency for chromosomal DSDs was consistent with the literature; however, we found that DSD 46, XY is more frequent in our cohort, which may be due to the age of the patients captured, the characteristics of our study population, or other causes that depend on the sample size.
METHODS: Descriptive and retrospective cross-sectional study that analyzed DSD patients from 2015 to 2021 attended a Paediatric Hospital from Mexico City.
RESULTS: One hundred one patients diagnosed with DSD were registered and grouped into different entities according to the Chicago consensus statement and the diagnosis defined by the multidisciplinary group. Of the total, 54% of them belong to the chromosomal DSD classification, 16% belongs to 46, XX and 30% of them belongs to the 46, XY classification.
CONCLUSIONS: The frequency for chromosomal DSDs was consistent with the literature; however, we found that DSD 46, XY is more frequent in our cohort, which may be due to the age of the patients captured, the characteristics of our study population, or other causes that depend on the sample size.
摘要：
背景：性发育差异（DSD）是一组异质性的先天性改变，会影响内部和/或外部的主要性别特征。虽然这些情况并不代表死亡风险，如果管理不当，他们可能会产生严重的心理情绪影响。可能导致DSD的遗传变化是多种多样的，从染色体改变到性发育网络中涉及的单碱基变异。关于DSD的流行病学研究表明，全球频率为1：4500-5500，可增加到1：200-300，包括孤立的解剖缺陷。据我们所知,这项研究首次描述了三级医院的墨西哥患者队列中DSD的流行病学和遗传特征.
方法：描述性和回顾性横断面研究，分析了2015年至2021年在墨西哥城儿科医院就诊的DSD患者。
结果：根据芝加哥共识声明和多学科小组定义的诊断，对诊断为DSD的100例患者进行了注册并分组为不同的实体。在总数中，其中54%属于染色体DSD分类，16%属于46，XX和30%属于46，XY分类。
结论：染色体DSD的频率与文献一致；然而，我们发现DSD46，XY在我们的队列中更常见，这可能是由于被捕获的病人的年龄，我们研究人群的特征，或其他取决于样本量的原因。
方法：描述性和回顾性横断面研究，分析了2015年至2021年在墨西哥城儿科医院就诊的DSD患者。
结果：根据芝加哥共识声明和多学科小组定义的诊断，对诊断为DSD的100例患者进行了注册并分组为不同的实体。在总数中，其中54%属于染色体DSD分类，16%属于46，XX和30%属于46，XY分类。
结论：染色体DSD的频率与文献一致；然而，我们发现DSD46，XY在我们的队列中更常见，这可能是由于被捕获的病人的年龄，我们研究人群的特征，或其他取决于样本量的原因。
