46XX with de la Chapelle syndrome

Testis and epididymis
Infertility
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 July 15th, 2017.

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