Persistent Müllerian Duct Syndrome Caused by a Novel Mutation of an Anti-MüIlerian Hormone Receptor Gene: Case Presentation and Literature Review.

Persistent Müllerian duct syndrome (PMDS) is a rare genetic disorder of male internal sexual development defined as lack of regression of Müllerian derivatives in the 46XY male with normally virilized external genitalia and unilateral or bilateral cryptorchidism. Approximately 85% of all cases are caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its receptor (AMHR2) with autosomal recessive transmission. This condition is frequently diagnosed incidentally, during surgical repair of inguinal hernia or cryptorchidism. There is no consensus on surgical approach: malignancy risk in the Müllerian duct remnant or undescended testis encourages early removal of the former and bilateral orchiopexy; however, removal of Müllerian structures can impair testicular and vas deferens blood supply, potentially causing infertility. Herein, we report on a male infant with PMDS caused by a novel homozygous missense mutation in AMHR2 (c.928C>T; p.Q310X), review the literature, and discuss the diverse clinical and surgical approaches to this condition.

[Open versus laparoscopic appendectomy in children in a regional hospital in Israel].

UNLABELLED: Although laparoscopic appendectomy (LA) has already been found to be associated with greater diagnostic accuracy, less post-operative pain and shorter hospital stay as compared to open appendectomy (OA), questions remain regarding the advantages of this approach and it is still not widely practiced in children, especially in regional hospitals. AIM: This study aims to evaluate Ha'emek Medical Center's initial experience with pediatric OA and LA between July 2002 and October 2003. METHODS: This study is a retrospective outcome analysis of pediatric OA and LA. Records of all children aged 0 to 14 years who underwent appendectomy for acute appendicitis, were reviewed. Operating time (OT), antibiotic treatment, analgesic needs, length of stay (LOS) and complications were analyzed and were compared between the groups. RESULTS: Seventy-one children with acute appendicitis underwent appendectomy in Ha'emek Medical Center between July 2002 and October 2003. Fifty-two children underwent OA and 19 underwent LA. There were no differences in age, sex, race, or stage of the appendicitis between the groups. LA took longer than OA (68 vs 37 minutes), length of stay was shorter for LA (2.8 vs 4.3 days), complications rate was not significantly different and overall hospital expenses were less for LA (NIS 5,756.95 vs. NIS 6,055.47). CONCLUSION: LA is as safe as OA and although it takes longer, recovery is faster. We, therefore, conclude that LA can be safely recommended for treating children with acute non-perforated appendicitis.