Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep1171 | Male Reproduction | ECE2017

Male pseudohermaphroditism with 45,X/46,X,idic(Y) karyotype: a case presenting with dysgenetic testis on one side and almost normally sized testis on the other side

Di Bari Flavia , Vita Roberto , Benvenga Salvatore

: Dicentric Y chromosome [idic(Y)] is the most common structural abnormality of this chromosome, and generally results from altered meiotic breakage and reunion of sister chromatids. Since this rearrangement is unstable, idic(Y) may be lost in subsequent cell cycles, resulting in a mosaic 45,X cell line. Variable are the phenotype and gonads (from streak gonads to ovotestes or dysgenetic testes). Few cases of 45,X/46,X,idic(Y) male pseudohermaphroditism with testes have been r...

ea0049ep1118 | Female Reproduction | ECE2017

Influence of peroxisome proliferator-activated receptor (PPAR)-γ exon 2 (Pro12Ala) and exon 6 (His447His) and Gly972Arg insulin receptor substrate (IRS)-1 polymorphisms on insulin resistance (IR) and beta cell function in Southern Mediterranean women with polycystic ovary syndrome (PCOS)

Russo Giuseppina T , Pappalardo Maria Angela , Giandalia Annalisa , Romeo Elisabetta L , Alibrandi Angela , Bari Flavia Di , Vita Roberto , Cucinotta Domenico , Benvenga Salvatore

The Pro12Ala and His447His polymorphisms of PPAR-γ, and Gly972Arg polymorphism of IRS-1 have been implicated in insulin resistance (IR) and adiposity. In this study, we investigated the possible influence of these polymorphisms on metabolic features of 53 PCOS women compared with 26 healthy women (controls). All women underwent a clinical, anthropometric and biochemical evaluation, including a 75-g oral glucose tolerance test; insulin secretion and sensitivity indices wer...