The Genetics of Delayed Puberty: What’s New? Does it Change What We Do?

Dr. Mark Palmert, MD, PhD, is a graduate of the Medical Scientist (MD/PhD) Training Program at Case Western Reserve University and of the Pediatrics and Pediatric Endocrinology Training Programs at Children’s Hospital in Boston/Harvard University. From 2007 to 2018 he was Head of the Division of Endocrinology at The Hospital for Sick Children (“SickKids”) in Toronto. In 2018 he transitioned to his current role as Associate Chair of Pediatrics (Ambulatory/Outpatient Care), and in 2022 he took on an additional role as Interim Head of the Division of Immunology and Allergy. Dr. Palmert is a Professor of Pediatrics and Physiology at the University of Toronto and a Senior Associate Scientist in the Genetics and Genome Biology Program within the Hospital’s Research Institute. He currently serves as President-elect of the Pediatric Endocrine Society.

Dr. Palmert’s research career has involved a combination of clinical and laboratory-based projects that have been continuously funded since 1998 by grants from industry, private research foundations, the US National Institutes of Health, the Canadian Institutes of Health Research, and Health Canada. The main foci of his research efforts include: (1) regulation and disorders of pubertal timing, including the basis for sex differences in the age at onset of puberty as well as how genetics influences pubertal timing; (2) basis of sex differences in brain structure and function, including examination of factors such as sex hormone exposure, sex chromosomes and maternal diet that modulate brain development; and (3) how sex-related CNS differences may influence pubertal timing. In addition to these puberty related research and clinical activities, Dr. Palmert also maintains an active clinical practice in general endocrinology, diabetes, and the care of transgender youth.

Learning Objectives:

  1. Summarize how genetic studies have enhanced understanding of the physiology of pubertal onset
  2. Identify key features that distinguish constitutional delay of growth and puberty from pathologic states
  3. Describe the utility of genetic tests in the diagnostic evaluation of delayed puberty


  • Mark Palmert, MD, PhD

This seminar was delivered as a Pediatric Grand Rounds Lecture at Children’s Hospital of Philadelphia, on November 29, 2023.

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Course Includes

  • 1 Lesson
  • Course Certificate
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