Management of deep infiltrating endometriosis of the rectum: Is a systematic temporary stoma relevant?

STUDY OBJECTIVE: To assess the value of performing a protective stoma in patients operated for rectal endometriosis. MATERIAL AND METHODS: From June 2009 to December 2011, 47 patients were operated for rectal endometriosis by segmental or discoid resection in 4 different centers. Two groups were formed: one with protective stoma (group S), n=33 and one without protective stoma (group NS), n=14. Data were collected from the CIRENDO database. MEASUREMENTS AND MAIN RESULTS: Postoperative complication rate of group NS was 57% against 48% in group S (P=0.75). There was an increasing trend of the rate of anastomotic leakage in group S as compared to group NS: 21% against 3% (P=0.073). All 3 patients of group NS with an anastomotic leakage were reoperated and the group S patient had medical treatment. In a center, digestive operative time was not necessarily performed in association with a gastrointestinal surgeon. All patients in group S had a restoration of continuity in about 3 months. Two of them had dilation of anastomotic stricture and 3 others showed a transient postoperative ileus during this recovery. Quality of life was assessed by the MOS SF-36 and significantly improved in both groups thanks to the intervention. CONCLUSION: Temporary digestive stoma in patients operated for rectal endometriosis has to be considered because in our study, it seems reducing complications such as anastomotic leakage. This must be confirmed with studies with larger numbers.

Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.

Chromosomal rearrangements involving both chromosome Y and chromosome 22 are rare, and may result in a number of different phenotypes. We report on a 4-year-old child with short stature and a dicentric chromosome with a deletion of the distal end of chromosome Yp. The pregnancy was uneventful, until intra-uterine growth retardation was noted. Prenatal karyotyping showed a (Y;22) translocation. No structural fetal abnormality was shown at ultrasound examination, and the pregnancy went to term. A growth-retarded boy with an otherwise normal physical examination was delivered at 39 weeks. At age 4, the child had short stature (-3 SD) without mental retardation. Radiological examination of the wrist was normal. A blood karyotype confirmed the chromosomal rearrangement previously seen on the amniotic fluid cells. C-banding showed a dicentric chromosome, and fluorescence in situ hybridization (FISH) with centromeric probes confirmed the presence of both chromosome Y and 22 centromeres on the derivative chromosome. The karyotype was thus 45,X,der(Y;22)(p11;q11)del(Y)(p11p11). Our patient's phenotype and chromosomal rearrangement prompted us to further investigate the distal Yp region. FISH using a subtelomeric probe showed a deletion of the distal Yp region. This technique also revealed that this chromosomal rearrangement resulted in the deletion of SHOX but not SRY. Although haploinsufficiency of SHOX may result in Léri-Weill Dyschondrosteosis, this diagnosis did not seem obvious in this young patient. This observation confirms the importance of FISH in the investigation of chromosomal abnormalities, and further delineates the phenotype of SHOX deleted patients.