Abstract Search

ey0020.4-3 | Sexuality, Fertility and Fertility Optimization in DSD | ESPEYB20

4.3. AAV-mediated gene therapy produces fertile offspring in the Lhcgr-deficient mouse model of Leydig cell failure

K Xia , F Wang , X Lai , L Dong , P Luo , S Zhang , C Yang , H Chen , Y Ma , W Huang , W Ou , Y Li , X Feng , B Yang , C Liu , Z Lei , X Tu , Q Ke , FF Mao , C Deng , AP Xiang

Brief summary: In this in vivo study, Xia et al. demonstrate that AAV-mediated gene therapy recovers testosterone levels, restarts sexual development, restores spermatogenesis, and produces fertile offspring in a mouse model of Leydig cell failure (LCF).A null mutation in the gene encoding luteinizing hormone/choriogonadotrophin receptor (Lhcgr) causes a hereditary LCF in mice which is characterized by a reduction in testosterone levels...

0 shares

ey0015.11-21 | Diet and the genes | ESPEYB15

11.21 Improving adherence to healthy dietary patterns, genetic risk, and long term weight gain: gene-diet interaction analysis in two prospective cohort studies

T Wang , Y Heianza , D Sun , T Huang , W Ma , EB Rimm , JE Manson , FB Hu , WC Willett , L Qi

To read the full abstract: BMJ. 2018 Jan 10;360:j5644On the basis of scientific evidence and dietary recommendations, several diet quality scores have been developed to evaluate the healthfulness of dietary patterns. Previous studies show that improvement in adherence to healthy dietary patterns is associated with less weight gain (2, 3, 4). But, until now, no study had assessed the interaction betwe...

0 shares

ey0019.7-4 | Clinical Guidance | ESPEYB19

7.4. The use of morning urinary gonadotropins and sex hormones in the management of early puberty in chinese girls

S Zhan , K Huang , W Wu , D Zhang , A Liu , RM Dorazio , J Shi , R Ullah , L Zhang , J Wang , G Dong , Y Ni , J Fu

J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4520-e4530. doi: 10.1210/clinem/dgab448. Erratum in: J Clin Endocrinol Metab. 2021 Nov 15;: PMID: 34160619https://academic.oup.com/jcem/article/106/11/e4520/6308284Brief Summary: This cross-sectional study of 355 girls with Central Precocious Puberty (CPP) evaluates t...

0 shares

ey0019.6-7 | Basic and Genetic Research of DSD | ESPEYB19

6.7. MAP3K1 variant causes hyperactivation of Wnt4/[beta]-catenin/FOXL2 signaling contributing to 46,XY disorders/differences of sex development

H Chen , Q Chen , Y Zhu , K Yuan , H Li , B Zhang , Z Jia , H Zhou , M Fan , Y Qiu , Q Zhuang , Z Lei , M Li , W Huang , L Liang , Q Yan , C Wang

Front Genet. 2022 Mar 3;13:736988. PMID: 35309143, doi: 10.3389/fgene.2022.736988.Brief Summary: This molecular study highlights a novel mechanism of action of Mitogen-activated protein kinase kinase kinase 1 (MAP3K1) in the development of testicular dysgenesis.MAP3K1 is one of the most common genes that has been identified to cause 46, XY DSD and variants are attribu...

0 shares

ESPE Yearbook of Paediatric Endocrinology

4.3. AAV-mediated gene therapy produces fertile offspring in the Lhcgr-deficient mouse model of Leydig cell failure

11.21 Improving adherence to healthy dietary patterns, genetic risk, and long term weight gain: gene-diet interaction analysis in two prospective cohort studies

7.4. The use of morning urinary gonadotropins and sex hormones in the management of early puberty in chinese girls

6.7. MAP3K1 variant causes hyperactivation of Wnt4/[beta]-catenin/FOXL2 signaling contributing to 46,XY disorders/differences of sex development

BiosciAbstracts