Searchable abstracts of presentations at key conferences in endocrinology

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...

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...

ea0090ep1085 | Late Breaking | ECE2023

A case of Primary pigmented nodular adrenocortical disease in a young woman with arterial hypertension

Morelli Valentina , Favero Vittoria , Campi Irene , Guizzardi Fabiana , Aresta Carmen , Persani Luca

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing’s syndrome (CS). Approximately 30% of patients with PPNAD are sporadic cases and the other are familial. We describe a case of a patient affected by PPNAD presenting with isolated arterial hypertension. A 19-year-old black female patient was referred to the Endocrinology Unit in september-2021 due to severe arterial hypertension and fatigue. Previous clinical history was un...

ea0070aep807 | Reproductive and Developmental Endocrinology | ECE2020

Genetic background and previous androgenization are associated with reproductive and non-reproductive outcomes of Gonadotropin-mediated pubertal induction in Congenital Hypogonadotropic Hypogonadism (CHH)

Cangiano Biagio , Goggi Giovanni , Federici Silvia , Guizzardi Fabiana , Vezzoli Valeria , Duminuco Paolo , Persani Luca , Bonomi Marco

CHH is a rare disease with a relevant genetic background, and is characterized by a failure to enter (complete forms) or to complete (partial forms) pubertal development. It requires a treatment to allow the completion of puberty, and in male this goal can be achieved either using testosterone replacement therapy or administering gonadotropins (Gn); the latter allows both testicular development and the endogenous testosterone production. There are few studies evaluating the th...

ea0056oc12.3 | Novel aspects of puberty development and Cushing's disease | ECE2018

Evaluation of genetic predisposition in severe and mild phenotypes of isolated hypogonadotropic hypogonadism

Cangiano Biagio , Duminuco Paolo , Vezzoli Valeria , Guizzardi Fabiana , Persani Luca , Bonomi Marco

Introduction: Isolated hypogonadotropic hypogonadism (IHH) often occurs in the pre-pubertal period but it can also manifest in post-puberal age. Recent position statements and guidelines differentiate between a ‘true’ hypogonadotropic hypogonadism, intended as congenital or acquired organic defect (characterized by frankly pathological total Testoterone values, TTe <3.5 nmol/l), and a ‘false’ or functional hypogonadism, associated to older age and comor...

ea0032p678 | Neuroendocrinology | ECE2013

Genotype and phenotype characterization of the cohort of Italian patients with idiopathic central hypogonadism (ICH)

Bonomi Marco , Vladimiro Libri Domenico , Guizzardi Fabiana , Duminuco Paolo , Agostino Sinisi Antonio , Simoni Manuela , Magnie Mohamad , Krausz Csilla , Persani Luca , On behalf of the Italian Societies for Endocrinology and Pediatric Endocrinology

ICH is a rare disease characterized by a complex pathogenesis, but with a strong genetic component. ICH may be associated to several other morphogenetic or inborn defects, such as the osmic defects that identify the Kallmann syndrome (KS). The description of several pedigrees including relatives affected either with isolated osmic defects or KS or normoosmic ICH (nICH) justifies the emerging idea of ICH as a complex genetic disease characterized by variable expressivity and pe...

ea0032p687 | Neuroendocrinology | ECE2013

Digenic and oligogenic cases in a large cohort of idiopathic central hypogonadism (ICH) patients

Libri Domenico , Bonomi Marco , Guizzardi Fabiana , Duminuco Paolo , Pincelli Ida , Russo Giovanni , Garolla Andrea , Krausz Csilla , Maghnie Mohamed , Padova Giuseppa , Persani Luca

ICH is a rare and heterogeneous condition due to defects in the onthogenesis, migration and action of GnRH secreting neurons. Recent publications indicate that ICH, though characterized by a strong genetic component, is a disease of multifactorial origin. Indeed, digenic and oligogenic defects have been described as a possible pathogenic explanation for this disease. Among the cohort of 315 ICH patients we identified 3 KS and 7 nICH patients (7 males, 3 females) with a biallel...