Endocrine Abstracts

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...

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...

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 ...

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...

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...

The thyroid differentiation score (TDS), calculated on the expression levels of 16 thyroid metabolism and function genes, was introduced by the Cancer Genome Atlas to characterize the differentiation status in papillary thyroid carcinoma (PTC). TDS has been reported to be significantly lower in BRAF-like than in RAS-like PTCs. Nevertheless, scanty data are available about TDS in either other malignant cancers or in benign thyroid nodules. The aim of the present study was to an...