Genetic etiology and treatment of "arrested type" spermatogenic failure

Abstract

Spermatogenic failure is a severe disease in male infertility, with high clinical incidence, and seriously affects the reproductive health and population security. However, due to its significant clinical heterogeneity and genetic heterogeneity, there is still no unified and standardized clinical treatment strategy currently. Our team has innovatively classified spermatogenic failure into 3 subtypes: "focal type", "arrested type" and "exhausted type". The "arrested type" spermatogenic failure is mainly caused by genetic factors such as chromosomal abnormalities, copy number variations, and single nucleotide mutations. In this paper, we review the phenotype and genetic etiology of "arrested type" spermatogenic failure, then screen the type of patients with the aid of whole-exome sequencing and other technologies, and provide frontier treatment options such as endocrine neoadjuvant therapy and targeted therapy for endocrine neoadjuvant therapy. What's more, we discuss the establishment of a multifaceted and precise diagnosis and treatment system combined with artificial intelligence.

Keywords

• spermatogenic failure
• arrested type
• clinical phenotype
• genetic etiology
• treatment system