Plenary Lecture 4 - Camran Nezhat, M.D. Lectureship in Innovations in Med: Reproductive Disorders-What We Have Learned from Mutations in Steroidogenesis

Date:October 21, 2014

Time:9:00 am - 9:45 am

Location:HCC Ballroom - Hawaii Convention Center

Presenters

J. Larry Jameson, M.D., Ph.D., University of Pennsylvania

Supporters

Endowed by a 2011 Gift from Camran Nezhat, M.D. Dr. Camran Nezhat pioneered techniques of video-assisted endoscopic surgery, which revolutionized modern day surgery. He, along with his brothers, Drs. Farr and Ceana Nezhat, performed some of the most advanced procedures with these techniques for the first time, thus opening the vistas for endoscopic surgeons all over the world.

Needs Assessment and Description
Genetic causes of reproductive dysfunction are being increasingly recognized. This session will provide clinicians and researchers with a deeper understanding of discoveries that clarify the pathways that control reproduction and modify differential diagnoses and treatment.

Learning Objectives
At the conclusion of this session, participants should be able to:

  1. Describe the role of SF-1 in adrenal and gonadal development.
  2.  Discuss the spectrum of reproductive disorders caused by mutations in SF-1.

ACGME Competency
Medical Knowledge

TEST QUESTION
A 2-year-old phenotypic female presents with adrenal insufficiency. The karyotype is 46,XY. The most likely cause is:
a. DAX-1 mutation
b. Adrenoleukodystrophy
c. Steroidogenic factor-1 (SF-1) mutation
d. 21-hydroxylase deficiency

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