Endocrine Abstracts

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...

Primary ovarian insufficiency (POI) is a highly heterogeneous condition defined by the occurrence of amenorrhoea, hypoestrogenism and hypergonadotropinism in women under 40. POI onset can be triggered by multiple factors, such as iatrogenic events, environmental conditions, autoimmunity or genetic alterations. When the ovarian insufficiency occurs as a consequence of either chromosomal or genetic alterations, it can be associated with other congenital abnormalities and classif...

Congenital hypogonadotropic hypogonadism (CHH) is a rare condition characterized by impairment of pubertal development, that can be associated with hypo/anosmia (Kallmann Syndrome, KS) or normosmia (nCHH). A genetic basis can be identified in nearly 50% of cases, with increasingly common detection of oligogenicity. CHH has a strong male predominance (MtoF ratio 5–3:1), although sex ratio for CHH in families with autosomal inheritance has been proven to be close to equal....

Patients with resistance to thyroid hormone β (RTHβ) often display a neurocognitive phenotype, but the underlying biological defects have not been characterized. The predominant receptor isoform expressed in brain tissue is TRα1 leading to the assumption that this receptor accounts for most of the T3 effects. Nevertheless, TRα and TRβ are both expressed in brain therefore our study aims to understand the impact of a mutant THRβ on TH action in the...

TERT is the protein component of the telomerase enzyme and is overexpressed in many cancer types. The most well-known role for TERT is the regeneration of telomeres allowing the avoidance of senescence and the continued proliferation of stem and cancer cells. Recent studies have identified other roles for TERT in compartments outside the nucleus, in particular in mitochondria, with a protective role against endogenous and therapy-induced oxidative stress (OS). A small subset o...

Mutations in THRA, a ligand-inducible transcription factor, cause Resistance to Thyroid Hormone α (RTHα). RTHα manifests with features of hypothyroidism (skeletal dysplasia and growth retardation, neurocognitive impairment, low metabolic rate, reduced intestinal transit) reflecting hormone resistance in TRα-expressing tissues, but associated paradoxically with near-normal circulating TH levels. The lack of clear-cut, abnormal thyroid function tests...

Thyroid cancer (TC) is the most common Endocrine malignancy. Nowadays Undifferentiated Thyroid Cancers (UTCs) are still a lethal disease, mostly because of the lack of effective therapeutic options. The insurgence of therapy resistance and disease relapse is believed to be caused by a subpopulation of cancer cells with a stem-like phenotype and specific tumor-initiating abilities, the so called Tumor-Initiating Cells (TICs). Several markers have been identified and described o...

Background: Postpartum depression (PPD) is a common mental health disorder with a major impact on maternal health and wellbeing and offspring development. Thyroperoxidase antibody (TPOAb) positivity is a major risk factor for postpartum thyroiditis and via this link, it is hypothesized that TPOAb positivity is a risk factor for PPD. However, the results of currently available single center studies are heterogeneous and affected by major study limitations.<p class="abstext"...

Background: thyroid function (TSH levels) and thyroid autoimmunity are involved in the immunomodulation of early pregnancy stages and can affect assisted reproductive technology (ART).Aims: 1) to evaluate if pre-conceptional TSH is associated with an increased risk of miscarriage, 2) to identify a TSH cut-off significantly associated with risk of miscarriage, 3) to assess the impact of TSH levels on primary and surrogate outcomes.M...

Background: Pregnancy does not cause differentiated thyroid cancer (DTC) recurrence in patients without structural or biochemical evidence of disease at the time of conception. However, data regarding pregnancy’s impact in patients with persistent DTC before conception are still controversial.Aim: The aim of the study was to determine whether pregnancy could significantly influence the outcome in DTC patients in persistence before pregnancy, but wit...