MULLERIAN ANOMALIES AND RENAL AGENESIS - AUTOSOMAL DOMINANT UROGENITAL ADYSPLASIA

Two families in which Muellerian anomalies or renal agenesis appeared to be caused by an autosomal dominant gene that produces unilateral or bilateral renal agenesis and a spectrum of Muellerian anomalies were studied. This single gene disorder may account for the high incidence of Muellerian anomalies observed in females with bilateral renal agenesis and the increased frequency of renal anomalies in patients with Muellerian malformations. The range of Muellerian anomalies in this disorder includes bicornuate uterus, uterus didelphys, Rokitansky-Kuster-Hauser syndrome (vaginal atresia with or without absence of the uterus) and total Muellerian aplasia. Gene expression is not sex limited. Affected males can have bilateral or unilateral renal agenesis, and possibly may have unilateral or bilateral absence of the vas deferens or seminal vesicles. Autosomal dominant urogenital adysplasia evidently is common, but underdiagnosed because of the deceptive variability in gene expression. Reduced gene penetrance and reduced biologic fitness from lethal renal anomalies or genital tract anomalies may obscure the autosomal dominant nature of this disorder in most families.