ABSTRACT
Nonobstructive azoospermia (NOA) is a disease with complex etiology, genetic heterogeneity and phenotypic heterogeneity caused by multiple factors, including chromosome abnormalities, Y chromosome microdeletions, gene mutations and epigenetic modifications. At present, there is no unified and effective treatment strategy to restore spermatogenesis. The current treatment options include preoperative hormone optimization therapy, changing the testicular spermatogenesis microenvironment, and stem cell therapy. This article reviews the existing genetic etiology of NOA and related treatment methods, in order to provide reference for the clinical treatment.
ABSTRACT
@#Congenital chest deformity is caused by abnormal development of spine or ribs, resulting in sternal depression or protrusion. Pectus carinatum and pectus excavatum are the most common diseases in clinic, which can either be accompanied by other syndromes or exist alone. The genetic factors of congenital thoracic deformity can be related to single gene mutation, polygene mutation and chromosome aberration. Common clinical congenital thoracic deformity with syndromes, such as Marfan syndrome and Noonan syndrome, often have relatively fixed and clear pathogenic genes. The genetic pathogenesis of non-syndromic and independent congenital thoracic malformations is usually diverse, and treatments for syndromic and non-syndromic congenital thoracic deformity are different. Therefore, it is necessary for us to differentiate syndromic and non-syndromic congenital thoracic deformities in basic research, clinical diagnosis and treatment.