Chand Momal T, Turner Stefanie, Solomon Leigh Ann, Jay Allison, Rabah Raja, Misra Vinod K
Department of Pathology, Ascension St John Hospital, Detroit, Michigan.
Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan.
J Pediatr Adolesc Gynecol. 2020 Oct;33(5):577-580. doi: 10.1016/j.jpag.2020.06.008. Epub 2020 Jun 19.
Swyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated that some cases may result from cryptic 45,X/46,XY mosaicism leading to abnormal gonadal development. The presence or absence of a 45,X lineage is important for prognosis and management.
We present a case of apparent Swyer syndrome associated with a 46,XY chromosomal complement in lymphocytes and 45,X/46,XY mosaicism on analysis of her noncancerous gonad. Gonadal histology was consistent with a 45,X phenotype.
This case demonstrates the clinical variability in the presentation of 45,X/46,XY mosaicism and highlights the importance of thorough genetic testing that includes consideration of chromosomal mosaicism. We will discuss the implications of this diagnosis for management.
斯维尔综合征是一种性发育差异疾病，通常与负责睾丸发育的基因突变有关。据推测，某些病例可能源于隐匿性45,X/46,XY嵌合体，导致性腺发育异常。45,X谱系的存在与否对预后和治疗至关重要。
我们报告一例明显的斯维尔综合征病例，淋巴细胞染色体组成为46,XY，非癌性腺组织分析显示为45,X/46,XY嵌合体。性腺组织学与45,X表型一致。
该病例展示了45,X/46,XY嵌合体临床表现的临床变异性，并强调了全面基因检测的重要性，包括考虑染色体嵌合体。我们将讨论这一诊断对治疗的影响。
