Searchable abstracts of presentations at key conferences in endocrinology

ea0016s14.1 | Basic highlights | ECE2008

Direct visualization of cyclic AMP levels in three dimensional cultures of thyroid follicles

Calebiro Davide , Nikolaev Viacheslav , Bonomi Marco , Persani Luca , Lohse Martin

Cyclic AMP (cAMP) is the principal intracellular mediator of TSH effects in the thyroid, inducing both thyroid hormone production and cell proliferation. This notion derives from a large series of evidences, mainly obtained by biochemical approaches on cell lines or primary thyrocytes. However, given the limited resolution in time and space of the techniques employed so far, little is know about the spatial localization and temporal dynamics of cAMP signaling in thyroid cells....

ea0073oc4.3 | Oral Communications 4: Reproductive and Developmental Endocrinology | ECE2021

Gender difference in genetic and diagnosis of congenital hypogonadotropic hypogonadism (CHH) in a large cohort from an Endo-ERN referral center

Federici Silvia , Cangiano Biagio , Goggi Giovanni , Persani Luca , Bonomi Marco

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....

ea0099ep886 | Diabetes, Obesity, Metabolism and Nutrition | ECE2024

Physical exercise as a sustainability tool in men affected with metabolic syndrome-related late-onset central hypogonadism: role of endocrine-metabolic and neurovegetative outcomes

Giovanelli Luca , Cangiano Biagio , Federici Silvia , Lucini Daniela , Bonomi Marco

Background: Late-onset central hypogonadism (LOH), whose prevalence is high among dysmetabolic males, impairs quality of life and increases cardiovascular risk. Although lifestyle modification is the first-line therapeutic strategy, it often fails in clinical practice, probably due to socio-cultural, economic and organisational barriers, as well as the lack of effective and sustainable intervention programs.Aim: To delineate sustainable physical exercise...

ea0081p689 | Pituitary and Neuroendocrinology | ECE2022

Peculiar presentation of a TSH-secreting pituitary adenoma: a possible new multiple endocrine syndrome?

Goggi Giovanni , Campi Irene , Delle Donne Elisa , Moro Mirella , Guizzardi Fabiana , Bonomi Marco , Persani Luca

Introduction: TSH-secreting pituitary adenomas (TSHomas) are a rare cause of central hyperthyroidism, accounting for less than 1% of all pituitary adenomas, with a prevalence in the general population of 1-2 cases per million.Case Presentation: A 45-year-old female patient presented in 2009 with hypertension and tachycardia: blood tests revealed an inappropriately normal TSH with high fT3/fT4 levels and primary hyperaldosteronism. She declined further in...

ea0081p191 | Reproductive and Developmental Endocrinology | ECE2022

FSH and bone: comparison between males with central vs primary hypogonadism

Giovanelli Luca , Cangiano Biagio , Colombo Stefano , Persani Luca , Quinton Richard , Bonomi Marco , Chiodini Iacopo

Background: Recent data suggest a direct effect of follicle stimulating hormone (FSH) on the skeletal metabolism. Particularly, it can encourage bone resorption and also inhibit osteoblast differentiation. High FSH levels have been found to correlate with impaired bone health in females, whilst evidence in males remains somewhat poor and conflicting. Intriguingly, men with primary and central hypogonadism might represent a novel study model in this context.<p class="abstex...

ea0081p713 | Reproductive and Developmental Endocrinology | ECE2022

Molecular and functional studies of novel genetic variants of TP63 an SAMD11 genes unravel their potential role in the pathogenesis of primary ovarian insufficiency

Rossetti Raffaella , Moleri Silvia , Guizzardi Fabiana , Bonomi Marco , Marozzi Anna , Brancati Francesco , Persani Luca

Primary ovarian insufficiency (POI) is one of the major causes of female infertility, affecting about 3.7% of women before the age of 40. POI is associated with the premature loss of ovarian function and can manifest with primary amenorrhea (PA) or post-pubertal secondary amenorrhea (SA), with elevated gonadotropins and hypoestrogenism. Several evidence established a clear genetic component to POI, albeit heterogeneous. In search of novel causative genes, we screened 64 POI pa...

ea0081ep646 | Pituitary and Neuroendocrinology | ECE2022

A clinical case of hypogonadism and anosmia associated with a new mutation of the KAL1/ANOS1 gene: a preliminary report

Del Prete Michela , Sacco Gianleone Di , Bonomi Marco , Vignati Federico , Muratori Fabrizio , Persani Luca

Introduction: Kallmann syndrome (KS) is a genetic condition characterized by the association of anosmia or hyposmia and GnRH deficiency resulting in congenital hypogonadotropic hypogonadism (CHH). Different genes can be implicated in KS, and the most frequent allelic variant occurs in the KAL1/ANOS1 gene in the X-linked form. Differential diagnosis is often made with other rare genetic diseases as CHARGE syndrome (CS) that includes hypogonadism, hyposmia and several organ defe...

ea0090p546 | Late-Breaking | ECE2023

Polycythemia vera and feminizing hormone treatment in an individual Assigned Male at Birth (AMAB): a prickly situation

Parazzoli Chiara , Delle Donne Elisa , Federici Silvia , Amer Myriam , Persani Luca , Bonomi Marco , Bonadonna Stefania

Introduction: Feminizing hormone therapy (HT) for male-assigned at birth (AMAB) includes estrogens, often in combination with anti-androgens. Several studies have reported an increased incidence of cardiovascular diseases and venous thromboembolism in AMAB receiving estrogens. Indeed, procoagulant changes induced by estrogen-based HT occur in transwomen as well as in cisgender individuals. Therefore, using estrogen in gender-affirming HT is relatively contraindicated in those ...

ea0049oc8.2 | Neuroendocrinology | ECE2017

Knocking down/out the prokineticin pathway during zebrafish development results in the GnRH neurons axons misguiding

Bassi Ivan , Marelli Federica , Vezzoli Valeria , Persani Luca , Gothilf Yoav , Bonomi Marco

Studies conducted using knockout mouse model revealed that defects of PROKR2 affect the correct ontogeny of GnRH neurons and, by consequence, neuroendocrine control of reproduction. Nevertheless its exact role during these processes and in the pathogenesis of congenital hypogonadotropic hypogonadism (CHH) remains elusive due to the phenotypic differences observed between mouse and human. Zebrafish (ZF) has emerged in the last ten years as a reliable model organism for studying...

ea0041oc5.5 | Neuroendocrinology | ECE2016

Zebrafish tool for the study of prokineticin receptor 2 (PROKR2) pathway on GNRH3 neuronal development

Bassi Ivan , Marelli Federica , Vezzoli Valeria , Persani Luca , Gothilf Yoav , Bonomi Marco

The G protein-coupled receptor PROKR2 play an important and not fully understood role in GnRH-secreting neurons physiology. Indeed, mutations of PROKR2 in humans are known to cause Congenital Hypogonadotropic Hypogonadism (CHH) although with an important reproductive and olfactory phenotypic heterogeneity. The attempt to mimic PROKR2 human allelic variants in mouse model has so far failed to give insights into the mechanisms involved. The zebrafish (ZF), due to its amenability...