Chapter 177 Uterine Agenesis
INTRODUCTION
Description: Uterine agenesis is failure of the Müllerian system to fuse in the midline to form the uterus. Incomplete variations of this failure result in a didelphic, bicornuate, septate, or arcuate uterus. It is also known as Mayer-Rokitansky-Küster-Hauser syndrome.
Prevalence: One of 4000 to 5000 female births. Second most common (15%) cause of primary amenorrhea.
ETIOLOGY AND PATHOGENESIS
Causes: Isolated developmental defect in most patients, production of anti-Müllerian hormone by Sertoli’s cells in fetal testes (in androgen resistance syndrome). 17α-Hydroxylase deficiency, 17, 20-desmolase deficiency, and agonadism may account for those rare individuals with no breast or uterine development and a male karyotype (vanishing testes syndrome).
