Kemal Topaloglu

Associate Professor, Neurobiology and Anatomical Sciences
Division of Pediatric Endocrinology, Department of Pediatrics,
Batson Children’s Hospital, University of Mississippi, Medical Center, USA

Training

Medical school: Cukurova University, Faculty of Medicine, Adana, Turkey – 1982-88;

Residency: Pediatrics, Istanbul Zeynep Kamil Children’s Hospital, Istanbul, Turkey – 1989-93;

Fellowships: Pediatric Endocrinology, Loyola University of Chicago, Maywood, IL – 1993-96; Human Molecular Genetics, Mt. Sinai School of Medicine, New York, NY – 1997-99;

Postdoctoral research training (Mentors): Stephen O’Rahilly FRS, MD. University of Cambridge, Institute of Metabolic Science, Cambridge, UK. July 2005-January 2006; Sergio R. Ojeda, DVM. Oregon Health and Science University, Oregon National Primate Research Center. Beaverton, OR – July 2012-July 2013


Research

What initiates the pubertal process in humans and other species is still an enigma. The hallmark of puberty is the reemergence of a pulsatile gonadotropin-releasing hormone (GnRH) release from the hypothalamus driving the pituitary gonadotropes to secrete luteinizing hormone (LH) and follicle-stimulating hormone (FSH), which act in concert to stimulate the gonads to bring about sex hormone secretion and gametogenesis. Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by failure to develop secondary sexual characteristics and a mature reproductive system due to defects in the central part of the hypothalamo-pituitary-gonadal (HPG) axis. In an effort to gain a greater understanding into the elusive pubertal process, we have undertaken a search for genes playing important roles in the generation of gonadotropin secretion in a cohort of familial IHH cases via autozygosity mapping. Our previous seminal descriptions of the mutated genes, TAC3, TACR3, and KISS1 in this patient cohort have helped characterization of the GnRH pulse generator. Along the same line, we hypothesize that gene(s), whose products trigger the GnRH pulse generator to restart ticking around the beginning of the second decade of life can also be identified via autozygosity mapping together with whole exome sequencing. Experiments in other model organisms will help characterize the exact function of the newly identified “puberty genes”, eventually leading to discovery of how puberty starts.

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