Searchable abstracts of presentations at key conferences in endocrinology

ea0037gp.08.03 | Reproduction: Male and endocrine disruptors | ECE2015

Infertile men have frequently Leydig cell dysfunction: study on hypogonadism, vitamin D and bone mass in 5177 subjects

Ferlin Alberto , Garolla Andrea , Selice Riccardo , Caretta Nicola , Pizzol Damiano , Foresta Carlo

Spermatogenic disruption is normally recognized by low sperm count and FSH levels. However, Leydig cell impairment is also frequent in subjects with primary testicular damage, as evidenced for example by reduced INSL3 and 25(OH)-vitamin D levels. The latter is caused by reduced expression of CYP2R1, a major enzyme involved in 25-hydroxylation of cholecalciferol. Furthermore, testosterone (T) production by the Leydig cells might be also impaired in men with primary spermatogeni...

ea0081ep913 | Reproductive and Developmental Endocrinology | ECE2022

Color-doppler ultrasound predicts hypothalamic-pituitary-testicular axis function in infertile patients

Grande Giuseppe , Palego Pierfrancesco , Canossa Andrea , Caretta Nicola , Nisio Andrea Di , Corona Giovanni , Ferlin Alberto , Foresta Carlo , Garolla Andrea

Scrotal color-doppler ultrasonography (sCDUS) and transrectal ultrasonography (trCDUS) provide crucial information about the clinical status of testes and male accessory glands. However, the US evaluation of the infertile male is still often considered as a second level diagnostic tool. To analyze the role of ultrasound in male infertility, in order to predict hypothalamic-pituitary-testicular axis function, 1120 records from infertile men were retrospectively evaluated (from ...

ea0063gp65 | Reproductive Axis | ECE2019

Testosterone replacement therapy outcomes in subjects with Klinefelter syndrome: preliminary results from a meta-analysis study

Vena Walter , Pizzocaro Alessandro , Pelliccione Fiore , Pivonello Rosario , Radicioni Antonio , Selice Riccardo , Rastrelli Giulia , Pasquali Daniela , Calogero Aldo Eugenio , Ferlin Alberto , Francavilla Sandro , Garolla Andrea , Corona Giovanni

Background: In patients with Klinefelter syndrome (KS) morbidity and mortality seem to be higher than general population, this depending on a wide number of possible comorbidities. Impaired metabolic profile, increased risk of venous thrombosis and the consequent increase of cardiovascular diseases might play a key role in this condition as well as reduced bone mineral density and higher fracture risk. Nowadays testosterone replacement therapy (TRT) is the first-choice treatme...

ea0037gp.08.02 | Reproduction: Male and endocrine disruptors | ECE2015

Deregulation of Sertoli and Leydig cells function in patients with Klinefelter syndrome as evidenced by testis transcriptome analysis

Ferlin Alberto , D'Aurora Marco , Nicola Marta Di , Garolla Andrea , Toni Luca De , Franchi Sara , Palka Giandomenico , Foresta Carlo , Stuppia Liborio , Gatta Valentina

Background: Klinefelter syndrome (KS) is the most common abnormality of sex chromosomes (47,XXY) and represents the first genetic cause of male infertility. Mechanisms leading to KS testis degeneration are still not completely defined but considered to be mainly the result of germ cells loss. In order to unravel the molecular basis of global testis dysfunction in KS patients, we performed a transcriptome analysis on testis biopsies obtained from six azoospermic non-mosaic KS p...

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...

ea0063p319 | Reproductive Endocrinology 1 | ECE2019

Characteristics, geographical distribution and age at diagnosis of patients with Klinefelter syndrome in Italy: a cohort study from the Klinefelter Italian Group (KING)

Pasquali Daniela , Garolla Andrea , Accardo Giacomo , di Fraia Rosa , Simeon Vittorio , Ferlin Alberto , Maggi Mario , Foresta Carlo , Vignozzi Linda , Corona Giovanni , Lanfranco Fabio , Rochira Vincenzo , Calogero Aldo E , Giagulli Vito A , Bonomi Marco , Pivonello Rosario , Balercia Giancarlo , Pizzocaro Alessandro , Salacone Pietro , Aversa Antonio , Barbonetty Arcangelo

Introduction: Klinefelter syndrome (KS) is the most frequent chromosomal disorders, occurring in 1:500 to 1:1000 live male births, associated to male infertility. Although significant research has been conducted, KS remains frustratingly underdiagnosed with a remarkable portion of cases being unidentified. Under diagnosis may be due to man’s hesitancy about seeking medical counseling, low awareness of KS among health professionals, and failure by health professionals to p...