Laparoscopic uterovaginal anastomosis in patients with congenital cervicovaginal atresia: An institutional experience with 23 patients.

OBJECTIVE: To introduce our experience of laparoscopic uterovaginal anastomosis and operative outcomes following this technique and update the clinical management of congenital cervicovaginal atresia. STUDY DESIGN: Between March 2015 and January 2019, twenty-three patients with congenital cervicovaginal atresia underwent laparoscopic uterovaginal anastomosis and Luohu procedure. Their clinical characteristics, surgical outcomes and follow-up data were retrospectively reviewed. RESULTS: The mean ± SD age of the cases was 16.4 ± 4.0 (11-26) years. All patients had a history of primary amenorrhea and cyclical abdominal pain, and the average delay in diagnosis from first symptoms was 33.5 ± 38 (1-156) months. Most of the patients had 1-3 cm long vaginal pouch. The operative procedure lasted 125 ± 32 (80-190) min. The average vaginal length at 1 month was 7.9 ± 1.3 (range 6-9) cm. All patients showed resumption of menstruation. The patients were followed for a mean of 27 ± 13 (12-56) months. During the follow-up, cervical stenosis did not occur in any of the cases. CONCLUSION: Laparoscopic uterovaginal anastomosis with Luohu procedure provided a minimally invasive, safe, and effective surgical option for the patients with congenital cervicovaginal atresia. The technique is uncomplicated, easy to learn and perform, and provides a functional and anatomic satisfactory result. No special surgical instruments are required with this technique.

Detection of de novo genetic variants in Mayer-Rokitansky-Küster-Hauser syndrome by whole genome sequencing.

OBJECTIVE: The aim of this study was to use whole genome sequencing (WGS) help detect de novo mutations or pathogenic genes of Mayer-Rokitansky-Küster-Hauser syndrome type 1(MRKH syndrome type 1). STUDY DESIGN: This was a case-parent trios study. Nine unrelated probands, with MRKH syndrome type 1 and their parents were enrolled. The enrollment, sequencing process, establishment of the de novo mutations detecting procedure and experiment part were performed over a 2-year period. RESULTS: we detected 632 de novo single nucleotide variants (SNVs), 267 de novo small insertions/deletions (indels), 39 de novo structural variations (SVs) and 28 de novo copy number alterations (CNAs). Three novel damaging coding de novo SNVs with three damaging coding de novo genes (PIK3CD, SLC4A10 and TNK2) were revealed. Two SNVs were annotated of the promoter region of gene NBPF10 and 3'UTR of NOTCH2NL, potentially contributing to the pathogenesis of MRKH. CONCLUSION: We identified five de novo mutations in BAZ2B, KLHL18, PIK3CD, SLC4A10 and TNK2 by performing WGS, the functional involvement of all deleterious mutations in MRKH candidate genes of the trios warrant further study. WGS may complement conventional array to capture the complete landscape of the genome in MRKH.

[Laparoscopy-insisted vaginoplasty with peritoneum in patients with androgen insensitivity syndrome].

OBJECTIVE: To investigate the technique and therapeutic effect of laparoscopy-insisted vaginoplasty with peritoneum in patients with androgen insensitivity syndrome. METHODS: From May. in the Fifth People' s Hospital of Shenzhen. The therapeutic effect was retrospectively analyzed. RESULTS: Laparoscopy-insisted vaginoplasty was successfully completely with peritoneum in patients with androgen in 4 cases. Ileumtivity segyndroment was used instead of peritoneum in one case. Open operation was not adopted in any cases. The ectopic testicles were removed during operation in 4 cases. The average operation time and bleeding volume was 60 min and 20 ml, respectively. Rectum, bladder and urethra were not injured in any case. The average vaginal length was 9 cm (range 8-10 cm) 21-28 days after operation. 6 months after operation, the surface of reconstructed vagina was smooth, ruddy and flexible, with satisfactory anatomical and functional results. Normal sexual activity was achieved in 2 cases. CONCLUSIONS: Laparoscopy-insisted vaginoplasty with peritoneum could be used for female patients with androgen insensitivity syndrome. The ectopic testicles should be removed. Estrogen supplement and psychological guide after operation are also important.