Testis and epididymis
46XX with de la Chapelle syndrome

Topic Completed: 1 September 2012

Revised: 27 March 2019

Copyright: 2002-2018, PathologyOutlines.com, Inc.

PubMed Search: de la Chapelle syndrome

Turki Al-Hussain, M.D.
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Table of Contents
Definition / general
Cite this page: Al-Hussain T. 46XX with de la Chapelle syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/testisdelachapelle.html. Accessed March 31st, 2020.
Definition / general
  • Small stature (smaller than Klinefelter), sparse pubic and facial hair, occasional gynecomastia, possibly reduced size of testes, prostate, penis
  • High FSH and LH, low testosterone, invariably sterile
  • May be due to XXY with loss or translocation of Y during development, hiostologic features of testis closely resemble those in Klinefelter snydrome
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