A case of laparoscopic excision of a rudimentary horn is presented. The anatomical features of this case are contrasted with others in the published literature. A 23 year old nulligravida presented with severe dysmenorrhoea and a pelvic mass. At laparoscopy a unicornuate uterus with a rudimentary horn was identified. The patient had stage III endometriosis. The rudimentary horn was attached to the unicornuate uterus by a band of tissue. The blood supply was identified within this band of tissue. The rudimentary horn was removed laparoscopically with no complications. There are two anatomical variations in the attachment of the rudimentary horn to the unicornuate uterus. Knowledge of both types is important to avoid complications such as bleeding and possible compromise of myometrial wall thickness.

The relationship between cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations and congenital absence of the uterus and vagina (CAUV) was examined. CFTR mutations have previously been associated with congenital bilateral absence of the vas deferens (CBAVD). CBAVD is caused by a disruption in the vas deferens, a Wolffian duct derivative. Because the embryologic development of the Müllerian ducts directly depends on the prior normal development of the Wolffian ducts, the same gene products may be necessary for normal embryologic development of both ductal systems. This study evaluated the role of CFTR mutations in the development of CAUV. DNA samples from 25 patients with CAUV were tested for the presence of 33 of the most common CFTR mutations. Protein-coding DNA fragments from the CFTR gene were amplified in vitro by the polymerase chain reaction (PCR) and analyzed for mutations using allele-specific oligonucleotide (ASO) probes. Two patients were heterozygous for CFTR mutations. One was heterozygous for the W1282X mutation and the other was heterozygous for the DeltaF508 mutation. The incidence of the 33 CFTR mutations found in the patients with CAUV (8%) was twice that found in the general population (4%), but much less than the incidence of CFTR mutations in men with CBAVD (80%). This data suggests that it is unlikely for CFTR mutations to cause CAUV in females as they cause CBAVD in some males. Furthermore, the data suggest that CAUV in females may be the same disorder as CBAVD in males who do not have CFTR mutations.

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