biostudies-literatureUnknown111(19)Jiang MObesity impairs male fertility, providing evidence for a link between adipose tissue and reproductive function; however, potential consequences of adipose tissue paucity on fertility remain unknown. Lack of s.c. fat is a hallmark of Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), which is caused by mutations in BSCL2-encoding seipin. Mice with a targeted deletion of murine seipin model BSCL2 with severe lipodystrophy, insulin resistance, and fatty liver but also exhibit male sterility. Here, we report teratozoospermia syndrome in a lipodystrophic patient with compound BSCL2 mutations, with sperm defects resembling the defects of infertile seipin null mutant mice. Analysis of conditional mouse mutants revealed that adipocyte-specific loss of seipin causes progressive lipodystrophProceedings of the National Academy of Sciences of the United States of America7054-9https://www.ebi.ac.uk/biostudies/studies/S-EPMC4024893biostudies-literatureLack of testicular seipin causes teratozoospermia syndrome in men.PMC4024893Yang HGao MSha JGuo XHe HWu CXiao XJiang MZhou ZLiu GfalseLack of testicular seipin causes teratozoospermia syndrome in men.Obesity impairs male fertility, providing evidence for a link between adipose tissue and reproductive function; however, potential consequences of adipose tissue paucity on fertility remain unknown. Lack of s.c. fat is a hallmark of Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), which is caused by mutations in BSCL2-encoding seipin. Mice with a targeted deletion of murine seipin model BSCL2 with severe lipodystrophy, insulin resistance, and fatty liver but also exhibit male sterility. Here, we report teratozoospermia syndrome in a lipodystrophic patient with compound BSCL2 mutations, with sperm defects resembling the defects of infertile seipin null mutant mice. Analysis of conditional mouse mutants revealed that adipocyte-specific loss of seipin causes progressive lipodystroph2014-01-01T00:00:00Z2014 May2025-04-05T13:37:05.833Z2019-03-27T01:28:26ZS-EPMC40248932477822510.1073/pnas.1324025111