Table of ContentsDefinition / 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