Searchable abstracts of presentations at key conferences in endocrinology

ea0026s11.1 | Genetics of male infertility | ECE2011

Update on genetics in male infertility

Ferlin Alberto

Despite spermatogenesis is among the most finely regulated processes in our body, few genetic tests are currently routinely used in infertile males. These include analysis of karyotype, Yq microdeletions, CFTR and androgen receptor gene mutations, which collectively account for 15–20% of male infertility. Very little is known about the pathogenic mechanism leading to spermatogenesis disruption in many of these patients, especially those carrying Yq microdeletions. Recent ...

ea0081p279 | Adrenal and Cardiovascular Endocrinology | ECE2022

Effects of FSH on endothelial function

Santa Rocca Maria , Pannella Micaela , Foresta Carlo , Ferlin Alberto

Follicle-stimulating hormone (FSH) is a member of the glycoprotein hormone family that plays a pivotal role in ovarian folliculogenesis and spermatogenesis. FSH receptor (FSHR) is, indeed, highly expressed in granulosa and Sertoli cells respectively. However, recent studies have detected FSHR also in extra-gonadal tissues, such as adipose tissue, bone, endometrium, placenta, endothelium, monocytes, and malignant tissues, suggesting, that the activity of this hormone may not be...

ea0081p526 | Adrenal and Cardiovascular Endocrinology | ECE2022

Testosterone, hypogonadism, and heart failure: a systematic and critical review

Di Lodovico Elena , Facondo Paolo , Delbarba Andrea , Chiara Pezzaioli Letizia , Maffezzoni Filippo , Cappelli Carlo , Ferlin Alberto

Background: Male hypogonadism is defined by low circulating testosterone level associated with signs and symptoms of testosterone deficiency. Although the bidirectional link between hypogonadism and cardiovascular disease has been clarified recently, the association between testosterone and chronic heart failure (CHF) is more controversial. Methods: We critically review published studies relating to testosterone, hypogonadism, and CHF and provide practic...

ea0081p441 | Reproductive and Developmental Endocrinology | ECE2022

Usefulness of routine assessment of free testosterone for the diagnosis of functional male hypogonadism

Facondo Paolo , Di Lodovico Elena , Chiara Pezzaioli Letizia , Cappelli Carlo , Ferlin Alberto , Delbarba Andrea

Objective: To investigate whether routine assessment of free testosterone improves the diagnostic accuracy of functional male hypogonadism.Methods: Total and free testosterone (calculated through SHBG assessment) were determined in 372 male patients (median age 44) referring to our department for sexual symptoms symptoms (188 patients) or infertility (184 men). Low total and free testosterone were defined as < 2.31 ng/ml and <63 pg/ml, respective...

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...

ea0037gp.10.08 | Calcium, Vitamin D and Bone | ECE2015

Role of vitamin D levels and vitamin D supplementation on bone mineral density in Klinefelter syndrome

Ferlin Alberto , Selice Riccardo , Di Mambro Antonella , Ghezzi Marco , Caretta Nicola , Foresta Carlo

Introduction: Decreased bone mineral density (BMD) in Klinefelter syndrome (KS) is frequent and it has been traditionally related to low testosterone levels. However, low BMD can be observed also in patients with normal testosterone levels and testosterone replacement therapy does not necessarily increase bone mass in these patients. Nothing is known about vitamin D levels and supplementation in KS. In this study we determine vitamin D status and bone mass in KS subjects and c...

ea0037ep221 | Reproduction, endocrine disruptors and signalling | ECE2015

Copy number variations in the X chromosome of Klinefelter syndrome

Ferlin Alberto , Rocca Maria Santa , Pecile Vanna , Selice Riccardo , Caretta Nicola , Foresta Carlo

Introduction: Klinefelter syndrome (KS) is characterised by the presence of at least one extra X chromosome and represents the most common chromosomal aberration in men. Apart from infertility, the clinical spectrum of KS is variable and often not directly related to hypogonadism, whose expression is also not unpredictable. Several genetic mechanisms may explain the clinical features and variability of the phenotype in KS. In particular, gene-dosage effects and the parental or...

ea0037ep222 | Reproduction, endocrine disruptors and signalling | ECE2015

Circulating levels of FSH in men are genetically determined: study of the combined effect of polymorphisms in FSHR and FSHB genes

Ferlin Alberto , Vinanzi Cinzia , Speltra Elena , Pengo Manuel , Rocca Maria Santa , Foresta Carlo

Introduction: Polymorphisms in the gene for FSH receptor (FSHR) and FSH β subunit (FSHB) might modulate FSH levels and represent genetic markers for a pharmacogenetic approach to male infertility treatment. rs6166 (c.2039 A>G, Asn680Ser) and rs1394205 (c.−29 G>A) in FSHR have been better analysed in women, whereas rs10835638 (−211 G>T) in FSHB seems to have a determinant role especially in men. However, studies considering the combined effect of th...

ea0070aep805 | Reproductive and Developmental Endocrinology | ECE2020

Hypogonadism and testis impairment in patients with amyloidosis due to Apo A-I Leu75Pro mutation

Facondo Paolo , Delbarba Andrea , Chiara Pezzaioli Letizia , Di Lodovico Elena , Cappelli Carlo , Scolari Francesco , Ferlin Alberto

Introduction: Amyloidosis due to Apo A-I Leu75Pro mutation is a rare form of hereditary amyloidosis with systemic involvement mainly of testicle, kidney and liver. This disease finds a wide prevalence in the province of Brescia (Northern Italy), which represents a geographic uniqueness for the spread of this amyloidosis form. Somefeatures of this disease have not yet been described.Purpose: To describe the frequency of organ damages in this amyloidosis f...

ea0081oc9.2 | Oral Communications 9: Environmental Endocrinology | ECE2022

Effect of legacy and new generation PFAS on thyrocyte function

De Toni Luca , Di Nisio Andrea , Dall'Acqua Stefano , Sut Stefania , Rocca Maria Santa , Ferlin Alberto , Foresta Carlo

Perfluoroalkyl substances (PFASs) have been claimed as thyroid disrupting chemicals since the exposure to several PFASs was significantly associated with thyroid hormones derangements. Demographics such as sex, age, and disease status likely influence the associations between PFASs exposure and thyroid hormones since major hypothyroidism effects were observed among pregnant women and infants. This study aims to evaluate of the possible impact of legacy and new-generation PFAS ...