Endocrine Abstracts

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor arising from parafollicular C-cells. Nowadays different targeted therapies are available, directed mostly against the main genetic driver of MTC, RET, and against the common pro-oncogenic pathways of VEGF, EGFR and c-MYC. Despite this, an escape phenomenon has been observed with sudden disease progression during treatment, leaving surgery as the only curative treatment. The evaluation of pre and post treatment ge...

Objectives: Differentiated TCs are generally sensitive to first line treatments and tyrosine kinase inhibitors (TKIs). However, part of them along with undifferentiated TC, namely Anaplastic (ATC) and Poorly Differentiated (PDTC), are aggressive and show refractoriness to tyrosine-kinase inhibitors (TKIs) treatments. A correlation between resistance to TKIs and inactivating TP53 mutations was proven in TC by our group, consistent with data obtained in other tumors. To...

Primary ovarian insufficiency (POI) affects 1% of women before age 40 years, and in 70-90% of cases is defined as idiopathic. Although numerous POI-associated genes have been identified in recent years, the prevalence and pathogenicity of individual rare gene variants is still difficult to establish. The aim of our study was to retrospectively analyze the correlation between genotype and phenotype in patients with idiopathic POI, providing a more detailed characterization of P...

Background: In patients affected by type 2 diabetes mellitus (T2DM) a high prevalence of hypogonadotropic hypogonadism (HH) has been reported, even if there is no consensus on its pathogenic mechanisms. In addition to acquired causes, an individual predisposition has also been suggested. The understanding ofPurpose: The aim of this observational study is to assess: (1) the prevalence of hypogonadism in T2DM using the validated criteria from the EMAS stud...

Thyroid hormone (TH) action is required for the adequate brain development. While TRα1 is recognized as the predominant receptor mediating most of these effects in brain tissue, the expression of both TRα and TRβ during development prompts further examination on their respective role. The study aims to investigate the role of TRβ during cortical neuron differentiation, taking advantage of induced pluripotent stem cells (iPSCs) obtained from patients with re...

Objectives: The oncogene UHRF1 (Ubiquitin-like with PHD and RING Finger domains 1) codifies for a nuclear protein which primarily acts as epigenetic regulator during the replication phase, but also as cycle cell regulator upon DNA damage. The over-expression of this oncogene has been documented in several human cancers, including thyroid cancers (TCs), and correlates with both tumour aggressiveness and response to treatment. Regarding TC, scanty data are available on ...

Increase of patients submitted to assisted reproduction techniques (ART) and to the high prevalence of thyroid disorders in the fertile age, this survey aimed to evaluate the current management of these women by the Italian thyroidologists. A short questionnaire was sent to all members of the AIT. The questions concerned the out-patients management of women of childbearing age with thyroid diseases. According to our results, there is a clinic dedicated to the management of pat...

The precise development of the Gonadotropin Releasing Hormone (GnRH) neurons is essential for the proper function of the hypothalamic-pituitary-gonadal axis, as GnRH is the master regulator of reproductive functions in vertebrates. Mutations in genes involved in the development of GnRH neurons are associated with Congenital Hypogonadotropic Hypogonadism (CHH), a heterogeneous genetic disorder characterized by hypogonadism, lack of puberty onset, and infertility, which is named...

Background: Cytology is the gold standard method for the differential diagnosis of thyroid nodules, though 25−30% of them are classified as indeterminate and, in some cases, surgery is required for a definitive diagnosis. Aim: In order to reduce unnecessary thyroid surgeries, we set up a ‘thyroid risk score’ (TRS) to increase the diagnostic accuracy in a large series of patients with indeterminate cytology and to apply it to a validation ...

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 ...