Searchable abstracts of presentations at key conferences in endocrinology

ea0090js4.1 | Joint Session 4: EAA (Andrology) | ECE2023

The X chromosome and male fitness

Krausz Csilla

Male infertility affects 7% of the general population and in about 50% of cases the aetiology remains unknown. The routine genetic testing is based on karyotype analysis and the screening of Y chromosome deletions. For long time the role of the other sex chromosome, the X chromosome, in spermatogenesis remained largely unexplored. While both sex chromosomes are derived from a pair of autosomes around 300 million years ago, their current size and gene content differs dramatical...

ea0041ep714 | Male Reproduction | ECE2016

Positive effect of FSH therapy on quantitative and functional sperm parameters in idiopathic infertile men

Krausz Csilla , Casamonti Elena , Vinci Sabrina , Fino Maria Grazia , Brilli Sara , Lotti Francesco , Serra Emmanuele

Follicle-stimulating hormone (FSH) therapy is a potential treatment option in idiopathic infertile men with normal FSH levels. In fact, a recent Cochrane meta-analysis showed that FSH treatment of men affected by idiopathic oligozoospermia significantly improves pregnancy rate. Hyaluronic acid (HA) binding capacity of spermatozoa is considered a marker of functional competency, consequently the evaluation of the percentage of HA bound spermatozoa in the ejaculate can serve as ...

ea0063gp250 | Disturbances of Reproduction | ECE2019

Diagnostic potential of a ‘mouse azoospermia’ gene panel in human azoospermia: identification of novel genetic causes of meiotic arrest

Riera-Escamilla Antoni , Enguita-Marruedo Andrea , Moreno-Mendoza Daniel , Chianese Chiara , Ruiz-Castane Eduard , Maggi Mario , Baarends Willy , Krausz Csilla

Purpose: Non-Obstructive Azoospermia (NOA), occurring in approximately 1% of men, has an unknown etiology in the majority of cases. This study aims at evaluating the diagnostic efficiency of a gene panel contemplating all known genes associated with azoospermia in mice.Subjects and methods: Design of a ‘mouse azoospermia’ gene panel through the consultation of MGI; selection of 175 mouse azoospermia genes with human orthologues; selection of 31...

ea0020oc3.3 | Reproduction/Stress/Endocrine Disruptors | ECE2009

ESE Young Investigator Award

Bonomi Marco , Libri Domenico , Antonica Francesco , Busnelli Marta , Beck-Peccoz Paolo , Maggi Roberto , Krausz Csilla , Persani Luca

Idiopathic central hypogonadism (ICH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. Depending on the association with a normal or defective sense of smell, ICH could be respectively identified as normosmic ICH (nICH) or Kallmann’s syndrome (KS). Recent experimental evidences indicate the involvement of the new PROK2/PROKR2 pathway in GnRH neuron maturation and function and mutations affecting these two genes have been described in some IC...

ea0056oc2.3 | Look who is controlling your gonads! | ECE2018

Whole exome sequencing in non-obstructive azoospermia allows the identification of a high-risk subgroup of infertile men for undiagnosed Fanconi Anemia, a cancer-prone disease

Krausz Csilla , Riera-Escamilla Antoni , Chianese Chiara , Moreno-Mendoza Daniel , Rajmil Osvaldo , Ruiz-Castane Eduard , Surralles Jordi

Background: The etiology of non-obstructive azoospermia (NOA) remains unknown in about 40% of cases and genetic factors are likely to be involved in a large proportion of them. Gene mutations involved in stem cell proliferation and DNA repair may cause isolated NOA or be responsible for syndromic diseases, such as Fanconi Anemia (FA). Although the most frequent presenting symptom in FA is bone marrow failure in childhood, in about 10% of cases the diagnosis is delayed until ad...

ea0070oc9.5 | Reproductive and Developmental Endocrinology | ECE2020

Genetic dissection of spermatogenic arrest through whole exome analysis: Clinical implications for the management of azoospermic men

Riera_Escamilla Antoni , Moreno-Mendoza Daniel , Holleman Kaylee , Casamonti Elena , Cioppi Francesca , Pietroforte Sara , Ruiz-Castané Eduard , Baarends Willy , Krausz Csilla

Background: Non-obstructive azoospermia affects about 1% of men and has a multifactorial etiology with heterogeneous testicular histology. Pure spermatogenic maturation arrest (MA) is a relatively rare NOA phenotype but its clinical relevance is high, since patients affected by MA should not undergo invasive testis surgery. A clear-cut distinction between MA and other spermatogenic disturbances leading to azoospermia is not possible with the currently available clinical tools....

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...

ea0022p725 | Signal transduction | ECE2010

Molecular origin of idiopathic central hypogonadism: variable impairment of two signal-transduction pathways due to PROKR2 mutations

Libri Domenico Vladimiro , Bonomi Marco , Busnelli Marta , Kleinau Gunnar , Krausz Csilla , Beck-Peccoz Paolo , Agostino Sinisi Antonio , Persani Luca , ICH study group of the Italian Societies for Endocrinology and Paediatric Endocrinology

ICH is a heterogeneous disease mainly due to functional defects of GnRH neurons. Recent studies have described the importance of prokineticin pathway in the pathogenesis of these defects. In a series of 166 ICH patients we found germline mutations affecting this pathway in about 10% of the cases. PROKR2 gene analysis revealed 3 novel (V158I, T260M, V334M) and 4 already known (L173R, R268C, V274D, V331M) mutations affecting different transmembrane and intracellular regions of t...

ea0016p398 | Neuroendocrinology | ECE2008

Genetic and clinical analyses in an Italian series of idiopathic hypogonadotropic hypogonadism

Bonomi Marco , Antonica Francesco , Cariboni Anna , Busnelli Marta , Pia Anna , Borretta Giorgio , Beck-Peccoz Paolo , Krausz Csilla , Maggi Roberto , Persani Luca

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. IHH could be associated or not with anosmia respectively identifying the Kallmann’s syndrome (KS) or the normosmic IHH (nIHH). So far numerous causative genetic defects have been described, but very recent molecular genetic studies and animal models have opened novel perspectives. We are studying a series of 16 KS (14M,2F) and 18 nIHH (14M,4F). Al...