Testis and epididymis
46XX with de la Chapelle syndrome

Author: Turki Al-Hussain, M.D. (see Authors page)

Revised: 5 April 2017, last major update September 2012

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PubMed Search: de la Chapelle syndrome

Table of Contents
Definition / general
Cite this page: 46XX with de la Chapelle syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/testisdelachapelle.html. Accessed October 16th, 2018.
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