Application of next-generation sequencing in the diagnosis of sexual development disorders / 中华内分泌代谢杂志

ABSTRACT

Disorders of sexual development (DSD) are rare conditions with abnormal sex determination and gender differentiation. There exists divergence of changes in chromosomal mutation, gonadal or genitalia abnormalities in DSD patients. The etiology of DSD is intricate, and the inheritance is regarded as classically Mendelian in most of the cases. Approximately, 20％ of patients could receive an accurate genetic diagnosis by Sanger sequencing. Nowadays, with the development of Next-generation sequencing technology, the potential disease-causing genes of DSD are emerging. In additional, oligogenic forms of DSD were increasing identified, indicating the complexity of the pathogenesis of the disorders. The emergence of Next-generation sequencing technology is helpful to early diagnosis and gender assignment, also contributing to long-term treatment strategy selection by Multi-discipline Team ( MDT). Meanwhile, the oligogenic transmission will take great challenges to making genetic counseling.