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ea0081p439 | Reproductive and Developmental Endocrinology | ECE2022

Coexistence of 46, XX testicular disorder of sex development and 11β-hydroxylase deficiency: In Vivo and In Vitro Studies

Sun Bang , Wang Xi , Mao Jiangfeng , Wu Xueyan , Nie Min

Background: 46, XX testicular disorder of sex development (DSD) and 11β-hydroxylase deficiency (11β-OHD) are two extremely rare types of disorder of sex development. No coexistence has been reported yet.Case Description: Here we reported the first patient diagnosed as the coexistence of 11β-OHD and 46, XX testicular DSD basing on clinical, biochemical, molecular, cytogenetic, and functional experiment findings. A 22-year-old male showed sm...

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ea0041ep418 | Diabetes (to include epidemiology, pathophysiology) | ECE2016

MiRNA-binding site polymorphisms of MODY genes associated with lipid profiles in Chinese patients with gestational diabetes mellitus

Wang Xiaojing , Li Wei , Gao Jinsong , Ma Liangkun , Fan Ping , Nie Min , Xiao Xinhua

Objective: Both MODY and GDM are characterized by pancreatic beta cell dysfunction. The study aimed to first investigate the associations between miR-SNPs of HNF4A, HNF1A and HNF1B genes and the GDM susceptibility and lipid profiles.Methods: The software PolymiRTS were used to screen miR-SNPs. Genotyping of SNPs was performed with TaqMan allelic discrimination assays in 839 GDM patients and 900 controls. Multivariable logistic ...

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Endocrine Abstracts

Coexistence of 46, XX testicular disorder of sex development and 11β-hydroxylase deficiency: In Vivo and In Vitro Studies

MiRNA-binding site polymorphisms of MODY genes associated with lipid profiles in Chinese patients with gestational diabetes mellitus

BiosciAbstracts