Searchable abstracts of presentations at key conferences in endocrinology

ea0032oc5.1 | Reproduction | ECE2013

BMP15-dependent gene-expression profiling in human granulosa cells

Rossetti Raffaella , Gentilini Davide , Beccaria Elena , Paffoni Alessio , Persani Luca

The oocyte-derived growth and differentiation paracrine factor BMP15 has emerged as an essential regulator of the ovarian folliculogenesis, from evidences in animal models (knockout mice and sheeps with naturally occurring mutations) and humans. Indeed, several BMP15 mutations have been identified in association with primary ovarian insufficiency (POI), a heterogeneous and frequent fertility disorder characterized by the premature depletion of ovarian follicles in women <4...

ea0056gp136 | Female Reproduction | ECE2018

Novel mechanisms and genes involved in the pathogenesis of primary ovarian insufficiency (POI) by whole-exome sequencing approach

Rossetti Raffaella , Ferrari Ilaria , Gentilini Davide , Persani Luca

The ovarian reserve naturally declines with age, however, 1–2% of women before 40 years experiences a premature exhaustion of the ovarian function and suffers from a fertility defect named Primary Ovarian Insufficiency (POI). The genetic origin of POI is well established and strongly supported by multiple reports of familial cases. To date, thanks to the candidate gene-discovery approach, few X-linked and autosomal genes have been associated to POI onset, but most of 46,X...

ea0084op-08-39 | Oral Session 8: Basic 2 | ETA2022

Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism

Muzza Marina , Gentilini Davide , de Filippis Tiziana , Calzari Luciano , Cristina Vigone Maria , Weber Giovanna , Cassio Alessandra , Olivieri Antonella , Persani Luca

Congenital Hypothyroidism (CH) is the most common congenital endocrine disease and avoidable cause of severe mental retardation. The CH pathogenesis may include the contribution of genetic and environmental factors. However, causal mutations have been found in a minority of cases. Moreover, the elevated frequency of discordance for CH phenotype between monozygotic (MZ) twins suggests the involvement of non-Mendelian mechanisms. Aim of this study was to investigate the role of ...

ea0041ep857 | Pituitary - Basic | ECE2016

Combined clinical and gene expression profiling in human ACTH-secreting pituitary tumors

Cassarino Maria Francesca , Cassarino Andrea , Terreni Mariarosa , Ambrogio Alberto Giacinto , Gentilini Davide , Losa Marco , Cavagnini Francesco , Giraldi Francesca Pecori

Introduction: We have previously reported on the considerable variability in ACTH-secreting pituitary adenomas in terms of responses to major modulators in vitro (Pecori Giraldi et al J. Neuroendocrinol. 2011). Further studies revealed also differences in gene expression profiles in specimens analyzed by microarray analysis. Aim of this study is to correlate transcriptome expression pattern in archival human ACTH-secreting adenomas with clinical features of patients p...

ea0092ps2-17-02 | Thyroid Cancer Diagnosis 2 | ETA2023

Monocentric validation of the ’thyroid risk score’ (TRS) in a large series of indeterminate thyroid nodules

Muzza Marina , Colombo Carla , Vannucchi Guia , Succi Massimiliano , Palazzo Sonia , Frattini Francesco , Gentilini Davide , Gazzano Giacomo , Persani Luca , Fugazzola Laura

The diagnosis of indeterminate thyroid nodules is a challenge in cytopathology practice. To increase the diagnostic accuracy in these cases, we previously set up a ’thyroid risk score’ (TRS), derived from the sum of the scores assigned to: cytology + EU-TIRADS classification + nodule size + molecular profile. In the present study we prospectively validated the reliability of the TRS in the clinical practice. From 2018 to 2022 we evaluated 354 indeterminate nodules (2...