Lectures

Turner syndrome

Lecture Type: Grandrounds

Turner syndrome

Dr. Carolyn Bondy's research aims at differentiating the respective roles of genome and hormone in gender-specific aspects of normal development and disease susceptibility. Studies encompass transgenic murine and non-human primate models, with clinical studies focused on monosomy X or Turner syndrome. One of the forerunners of clinical research on Turner syndrome, Dr. Bondy serves as Scientist Emeritus at the National Institute of Child Health and Human Development, NIH, in Bethesda, Maryland.

Invited Speakers

  • Carolyn Bondy, MD

Context

Turner syndrome is often not diagnosed until a woman is in her 30s, and even after diagnosis, many women do not receive essential screening for associated medical conditions, adequate counseling or treatment for ovarian failure. Modern studies show that Turner syndrome is more prevalent than appreciated, and the "characteristic" stigmata affect only a small minority of patients. Clinicians must consider Turner syndrome in the differential diagnosis of hypergonadotropic hypogonadism in women of all ages, and be informed on the most effective screening tests such as cardiac MRI to detect aortic disease and the most up-to-date recommendations on reproductive issues. The lecture will provide updates on clinical signs and diagnostic tests and review recommended screening tests upon diagnosis. Both spontaneous and assisted fertility rates and outcomes will be covered, with a summary of current guidelines for reproductive success in women with Turner syndrome.

Objetives

  • Describe the three leading features suggestive of Turner Syndrome diagnosis
  • Identify four important screening tests for newly diagnosed patients
  • Explain current ASRM guidelines on assisted pregnancy for women with Turner Syndrome

VIDEO: Turner syndrome


Recorded on: Tuesday, April 9, 2013

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