Searchable abstracts of presentations at key conferences in endocrinology
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21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

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18-21 May 2019, Lyon, France

Guided Posters

Reproductive Axis

ea0063gp61 | Reproductive Axis | ECE2019

Novel phenotype of isolated diminished ovarian reserve and new CSB-PGBD3 (ERCC6) mutations revealed by targeted next generation sequencing in a cohort of caucasian infertile women

Heddar Abdelkader , Akloul Linda , Lurton Yann , Bernhard Mathilde Domin , Odent Sylvie , Misrahi Michleine

Primary Ovarian Insufficiency (POI) affects ~1% of women under forty leading most often to definitive infertility. About 25% of cases seem to be of genetic origin. The recent leap due to whole exome sequencing has led to the identification of new genes involved. Up to now more than sixty genes have been implicated in POI. Diminished Ovarian Reserve (DOR) also leads to female infertility. DOR is defined by a decreased quantity or quality of follicles based on antral follicle co...

ea0063gp62 | Reproductive Axis | ECE2019

Hypothalamic miR-30 regulates puberty onset via repression of the puberty-suppressing factor, Mkrn3

Castellano Juan M , Heras Violeta , Sangiao-Alvarellos Susana , Manfredi-Lozano Maria , Sanchez-Tapia Maria J , Ruiz-Pino Francisco , Roa Juan , Lara-Chica Maribel , Morrugares-Carmona Rosario , Abreu Ana P , Belsham Denise , Vazquez Maria J , Calzado Marco A , Pinilla Leonor , Gaytan Francisco , Latronico Ana C , Kaiser Ursula B , Tena-Sempere Manuel

Mkrn3, the maternally imprinted gene encoding the makorin RING-finger protein-3, has recently emerged as putative pubertal repressor, as evidenced by central precocity caused by MKRN3 mutations in humans; yet, the molecular underpinnings of this key regulatory action remain largely unexplored. We report herein that the microRNA, miR-30, with three binding sites in a highly conserved region of its 3’-untranslated region (UTR), operates as repressor of Mkrn3 to control pube...

ea0063gp63 | Reproductive Axis | ECE2019

A KISS1R gene variant in a pedigree with maternally inherited precocious puberty

Stefanija Magdalena Avbelj , Kovač Jernej , Yablonski Galia , Toromanović Alma , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: The genetic causes of central precocious puberty (CPP) of clinical value identified to date are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Given that CPP is typically maternally inherited, however, the molecular genetic background in the majority of CPP cases remains unknown. Using candidate gene approach focused on genes regulating GnRH secretion and action so far exceedingly rare patients with CPP ...

ea0063gp64 | Reproductive Axis | ECE2019

Untargeted lipidomics profiling by high-performance liquid chromatography/time-of-flight mass spectrometry in polycystic ovary syndrome: candidate biomarkers and association to disease traits

Georgescu Carmen Emanuela , Vonica Camelia , Ilie Ioana Rada , Moraru Corina , Pop Dana , Hazi Georgeta , Pinzariu Oana , Socaciu Carmen

Background: Metabolomics profiling of bio-fluids suggests altered signatures in patients with the polycystic ovary syndrome (PCOS).Subjects and methods: A high-performance liquid chromatography/time-of-flight mass spectrometry (HPLC/TOF-MS)-based metabolomics approach was developed to characterize the untargeted lipidomics signature associated with PCOS status in a discovery cohort of 30 plasma samples (15 PCOS, 15 controls, age-matched), followed in a s...

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...

ea0063gp66 | Reproductive Axis | ECE2019

Diet patterns in patients with PCOS

Zabuliene Lina , Urbonas Mykolas , Butvile Edita Saukaityte

The study aimed to investigate diet patterns and its association with metabolic features in patients with PCOS.Material and methods: 116 women with PCOS (according to Rotterdam criteria) were investigated in Vilnius city (Lithuania) in 2009–2011. Information about nutrition habits was collected utilizing qualitative food frequency questionnaire. Participants were tested for total testosterone, sex hormone-binding globulin, fasting glucose, insulin a...

ea0063gp67 | Reproductive Axis | ECE2019

MRI-based proton-density fat fraction measurements reveal alterations of abdominal fat, bone and muscle composition in lean women with PCOS

Oguz Seda H. , Idilman İlkay S. , Helvaci Nafiye , Karcaaltincaba Musturay , Yildiz Bulent Okan

Background: Proton-density fat fraction (PDFF), derived from chemical shift encoding-based water-fat magnetic resonance imaging, has emerged as an important surrogate method for calculation of fat composition in a number of tissues including liver, vertebrae and muscles. This study aims to determine whether fat composition of these tissues, as well as visceral and subcutaneous adiposity differ between women with PCOS and healthy controls.Methods: 17 lean...

ea0063gp68 | Reproductive Axis | ECE2019

DHT, rather than free testosterone, influences symptoms of aging in eugonadal men

Sansone Andrea , Kliesch Sabine , Tuttelmann Frank , Dugas Martin , Isidori Andrea M. , Schlatt Stefan , Zitzmann Michael

Aim: To assess the relation between questionnaires of androgenic function (AMS and IIEF-EF scores) and sex hormones (DHT, estradiol and total and free testosterone) in men attending an outpatient clinic for endocrine and reproductive disorders.Methods: We retrospectively reviewed all data entered in the electronic database of the Münster Center of Reproductive Medicine and Andrology (CeRA) Androbase from patients visited between January 2015 and Oct...

ea0063gp69 | Reproductive Axis | ECE2019

Male patients with hypogonadism have an impaired lipoprotein function

Cangiano Biagio , Adorni Maria Pia , Zimetti Francesca , Vezzoli Valeria , Bernini Franco , Caruso Donatella , Corsini Alberto , Sirtori Cesare R. , Cariboni Anna , Ruscica Massimiliano , Bonomi Marco

Background: Male hypogonadism is known to be associated with an increased incidence of cardiovascular (CV) events, although the underlying biochemical mechanisms are so far not fully understood. The clinical condition characterized by low levels of testosterone offers a unique model to unravel the possible role of lipoprotein-associated abnormalities in CV risk. In particular, the assessment of the functional capacities of high-density lipoproteins (HDL) may provide novel insi...