Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0035oc12.5 | Pituitary Basic | ECE2014

Does hypercortisolism of Cushing’s syndrome affect telomere length?

Aulinas Anna , Ramirez Maria Jose , Barahona Maria Jose , Valassi Elena , Resmini Eugenia , Mato Eugenia , Santos Alicia , Crespo Iris , Bell Olga , Surralles Jordi , Webb Susan

Introduction: Hypercortisolism in Cushing’s syndrome (CS) determines increased mortality and morbidity. Hypercortisolism is also present in chronic depressive disorders and stress, where telomere length (TL) is shorter than in controls. We hypothesized that telomere shortening may occur and contribute to premature morbidity in CS.Aim: Investigate TL in CS compared to matched controls, and longitudinally in a subset of CS patients evaluated both with...

ea0032p873 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Relationship between telomere length and dyslipidemia in patients with Cushing's syndrome

Aulinas Anna , Jose Ramirez Maria , Jose Barahona Maria , Mato Eugenia , Bell Olga , Valiente Cristian , Valassi Elena , Resmini Eugenia , Santos Alicia , Crespo Iris , Corcoy Rosa , Surralles Jordi , Webb Susan M.

Introduction: Cushing’s syndrome (CS) is associated with increased mortality and morbidities. Hypercortisolism is also present in chronic mood disorders (CMD) and stress, where telomere length (TL) has been found to be shorter than in matched controls. Since hypercortisolism is present in CS and CMD, we hypothesized that telomere shortening could also be present in CS. The aim of this study was to investigate TL in CS patients compared to matched controls.<p class="ab...