Olivera-Bernal Grecia C, De Ita-Ley Marlon, Ricárdez-Marcial Edgar F, Garduño-Zarazúa Luz María, González-Cuevas Ángel Ricardo, Sepúlveda-Robles Omar A, Huicochea-Montiel Juan Carlos, Cárdenas-Conejo Alan, Santana-Díaz Laura, Rosas-Vargas Haydeé
Medical Research Unit in Human Genetics, Instituto Mexicano del Seguro Social (IMSS)/Hospital de Pediatría, Centro Médico Nacional SXXI, Ave. Cuauhtémoc 330, 06720, Mexico City, Mexico.
Department of Genetics and Molecular Biology, Centro de Investigación y de Estudios Avanzados, Instituto Politécnico Nacional, Mexico City, Mexico.
Mol Cytogenet. 2024 Jul 15;17(1):16. doi: 10.1186/s13039-024-00685-1.
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.
Descriptive and retrospective cross-sectional study that analyzed DSD patients from 2015 to 2021 attended a Paediatric Hospital from Mexico City.
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.
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.
性发育差异（DSD）是一组异质性先天性改变，影响内源性和/或外源性主要性征。虽然这些情况不构成死亡风险，但如果管理不当，可能会产生严重的心理情绪影响。可导致DSD的基因变化多种多样，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，全球发病率为1:4500 - 5500，若包括孤立的解剖缺陷，发病率可增至1:200 - 300。据我们所知，本研究是首次描述一家三级护理医院的墨西哥患者队列中DSD的流行病学和基因特征。
进行描述性和回顾性横断面研究，分析2015年至2021年在墨西哥城一家儿科医院就诊的DSD患者。
登记了101例诊断为DSD的患者，并根据芝加哥共识声明和多学科小组定义的诊断将其分为不同类型。其中，54%属于染色体DSD分类，16%属于46, XX分类，30%属于46, XY分类。
染色体DSD的发生率与文献一致；然而，我们发现DSD 46, XY在我们的队列中更为常见，这可能是由于所纳入患者的年龄、我们研究人群的特征或其他取决于样本量的原因。
