PDF(Pubmed)
Abstract：
A 46,XX male represents a variant of Klinefelter syndrome (47,XXY), under the category of a disorder of sex development (DSD). Despite possessing an XX karyotype, these individuals exhibit a male phenotype, which, in this case, results from a translocation of the SRY gene from the Y chromosome onto the X chromosome. This genetic alteration results in the development of male gonadal characteristics. This case report outlines a prenatal diagnosis of a 46,XX female in conflict with a level 2 ultrasound. It details the patient\'s presentation, diagnosis of an SRY-positive 46,XX male, and medical history. The discussion focuses on the advantages of early identification and intervention in managing symptom progression and addressing fertility challenges through hormone replacement therapy. Further exploration of 46,XX DSD early detection and the underlying mechanisms is essential for refining diagnostic and therapeutic approaches that result in a greater quality of life for these patients.
摘要：
男性46，XX代表Klinefelter综合征（47，XXY）的一种变体，在性发育障碍（DSD）类别下。尽管拥有XX核型,这些个体表现出男性表型，which,在这种情况下,SRY基因从Y染色体易位到X染色体的结果。这种遗传改变导致男性性腺特征的发展。此病例报告概述了一名46，XX女性的产前诊断与2级超声相冲突。它详细介绍了病人的情况，诊断为SRY阳性46名XX男性,和病史。讨论的重点是早期识别和干预在管理症状进展和通过激素替代疗法解决生育挑战方面的优势。进一步探索46，XXDSD的早期检测和潜在机制对于完善诊断和治疗方法至关重要，这些方法可以提高这些患者的生活质量。
