S36 Genetic and Clinical Aspects of Pubertal Timing

Program: Symposia
Clinical/Translational Session
Friday, March 6, 2015: 4:30 PM-6:00 PM
Room 6F (San Diego Convention Center)
**This session is eligible for CME credit**

Mark Raney Palmert, Hospital for Sick Children and the University of Toronto, Toronto, Canada

Nothing to Disclose: MRP

Novel information continues to emerge about the genetic determinants of pubertal development. During this symposium, speakers will focus on three areas with exciting new data.  In the first presentation, Dr. Layman will discuss the importance of different mechanisms of estrogen receptor signaling to metabolism, pubertal development, and fertility as demonstrated by mutations in ESR1. We will then compare the phenotypes of humans with ESR1 mutations to knockout mice and speculate upon possible phenotypes of milder human ESR1 and ESR2 mutations. We will thereafter discuss the importance of genetic findings to the understanding of common variations in pubertal timing.  Dr. Dunkel will describe the use of next-generation sequencing (NGS) to identify genes underlying constitutional delay of growth and puberty (CDGP) and discuss the significant genetic heterogeneity that underlies this condition.  Finally, in a complementary presentation, Dr. Abreu will describe the use of NGS to identify a gene that causes precocious puberty and discuss the underlying biology and clinical implications of these new findings.

4:30 PM
Lawrence C Layman, MD, Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Neuroscience & Regenerative Medicine, and Physiology, Medical College of Georgia at Georgia Regents University, Augusta, GA
Nothing to Disclose: LCL
5:00 PM
Leo Dunkel, MD, PhD, Queen Mary University of London, Centre for Endocrinology, William Harvey Research Institute, London, United Kingdom
Nothing to Disclose: LD
5:30 PM
Ana Paula Abreu, Division of Endocrinology/Diabetes, Brigham and Women's Hospital/Harvard Med School, Boston, MA
Nothing to Disclose: APA
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