Risk of Malignancy and Need for Surgery in Pediatric Patients with Morris or Y-chromosome Turner Syndrome: A Multicenter Survey.

STUDY OBJECTIVE: The management of intersex patients with Y-chromosome Turner or Morris syndrome remains a challenge. We report our experience with a multicenter European survey. DESIGN: We collected the data on 18 patients (mean age 10.2 years, range 2-17 years) with Morris (10 patients) or Turner (8 patients) syndrome harboring the Y chromosome who were treated in 1 of 6 European centers of pediatric surgery between 1997 and 2013. All patients were evaluated by use of a multidisciplinary diagnostic protocol. All patients received a bilateral gonadectomy via laparoscopy; only 1 center performed ovarian cryopreservation. Seven patients received a concomitant genitoplasty. Operative notes and histology were reviewed for details. RESULTS: No conversions to laparotomy and no complications were recorded. For the patients receiving only the gonadectomy, the length of hospital stay was 24-48 hours, whereas for the patients receiving an associated genitoplasty, it was 6-10 days. Specimens were negative for tumors in 83.3% of cases, whereas in 3 patients (16.6%), benign abnormalities (Sertoli cell hyperplasia in 1 patient and ovotestis in 2 patients) were recorded. A malignant tumor was not recorded in our series. CONCLUSION: If the risk of malignancy is considered as the main indication for surgery in case of Turner or Morris syndrome, on the basis of our study, this indication should be reevaluated. However, based on the non-negligible rate of benign abnormalities reported in our series (16.6%), the performance of cryopreservation to preserve fertility and the possibility of performing genitoplasty during the same anesthetic procedure represent additional valid indications for surgery.

Timing of surgery for feminizing genitoplasty in patients suffering from congenital adrenal hyperplasia.

This chapter refers only to female patients with congenital adrenal hyperplasia (CAH). CAH represents the largest subgroup of individuals with 46,XX disorders of sex development. The stimulation of the androgen production leads to a prenatal virilization among these girls. The phenotype is influenced by the severity of the enzyme defect, leading to a virilization of the external genitalia in varying degrees. On the other hand, the affected girls are clearly anatomically female with regularly developed female internal genitalia. Female puberty and potential female fertility are therefore to be expected. The operation to feminize the genitalia includes the separation of the sinus urogenitalis, the creation of a functionally wide enough vagina, the remodeling of the labioscrotal folds to create larger labia, and, if necessary, a reduction clitoroplasty. Considering the lack of scientific evidence, it is not possible to make definitive statements regarding the timing of surgery for girls with CAH. There are no studies that prove whether one- or two-stage surgery provides more or clearer advantages.