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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Rapid Free Communications


A Novel Mutation of KISS1R Causing a Normosmic Isolated Hypogonadotropic Hypogonadism
aINSERM U1141, Paris Diderot University, Paris, France; bDivision of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan; cUnité de Gynécologie Endocrinienne, Hôpital Port-Royal, Paris Descartes University, Paris, France; dBiochemistry Laboratory, Robert Debré Hospital, Paris, France
Next Generation Sequencing and Precocious Puberty: A New Diagnostic Challenge to Identify the Molecular Basis of Complex Diseases
aMedical Genetics Unit, Meyer Children’s University Hospital, Florence, Italy; bDepartment of Clinical and Experimental Biomedical Sciences ‘Mario Serio’, Medical Genetics Unit, University of Florence, Florence, Italy; cHealth Sciences Department, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy
A Novel MKRN3 Nonsense Mutation Causing Familial Central Precocious Puberty
a1st Pediatric, Faculty of Health Sciences, Medical Department, Aristotle University, Thessaloniki, Greece; bSt George’s University of London, Medical School at the University of Nicosia, Nicosia, Cyprus; cDepartment of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus; dNMR Centre for Structural Biology, Institute of Integrative Biology, University of Liverpool, Liverpool, UK
Prevalence of Organic Lesions in Males with Central Precocious Puberty
aUnit of Endocrinology and Diabetes, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; bMolecular Endocrinology Unit, Bambino Gesù Children’s Hospital-Tor Vergata University, Rome, Italy; cDepartment of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden
Circulating MKRN3 Levels Decline During Puberty in Healthy Boys
Department of Growth and Reproduction & EDMaRC, Rigshospitalet, Copenhagen, Denmark