Post-operative management of esophageal atresia-tracheoesophageal fistula and gastroesophageal reflux: A Canadian Association of Pediatric Surgeons annual meeting survey

Background: Esophageal atresia (EA), with or without tracheoesophageal fistula (TEF), is commonly associated with gastroesophageal reflux (GER) after surgical repair. One risk factor for anastomotic stricture is post-operative GER. This survey assessed practice patterns among attendees at the Canadian Association of Pediatric Surgeons (CAPS) annual meeting with respect to management of GER post EA-TEF repair. Methods: A pre-piloted survey was handed out and collected at the 2012 CAPS annual meeting. Data were entered and coded, and descriptive statistics were calculated. Results: We distributed 70 surveys, and 57 (81.4%) surveys were returned. On average, the incidence of EA-TEF is 8-10 cases per institution, per year. Anti-reflux medication is started immediately post-operatively in 74% of patients at institution of feeds (11%), or if symptoms of reflux develop (14%). Proton pump inhibitors and H2-receptor antagonists are used in approximately equal proportion. Patients are typically kept on antireflux medication for 3-6 months (37%) or 6-12 months (35%). Conclusions: Most CAPS attendees treat postoperative GER prophylactically. However, there is no consistency in management strategy regarding which anti-reflux agent to use or for how long. A multi-centered study is required to establish a standardized protocol for the post-operative management of EA-TEF to prevent reflux and its effect on anastomotic strictures

Successful in vitro maturation of oocytes in a woman with gonadotropin-resistant ovary syndrome associated with a novel combination of FSH receptor gene variants: a case report

International audienceInfertility due to Gonadotropin-Resistant Ovary Syndrome (GROS) is a rare type of hypergonadotropic hypogonadism. Here, we report an original case of GROS, associated with compound heterozygous follicle-stimulating hormone receptor (FSHR) variants, in a woman who achieved a live birth by in vitro maturation (IVM) of her oocytes. This 31-year-old woman consulted our assisted reproduction center for a second opinion after having been advised, because of pervasive high serum follicle-stimulating hormone (FSH) levels, to pursue in vitro fertilization (IVF) with donor oocytes. She presented with primary infertility and progressively prolonged menstrual cycles. Her serum FSH levels were indeed found to be high, but in discordance with a normal anti-Müllerian hormone (AMH) level and antral follicle count. Genetic investigation found the patient to be compound heterozygous for two FSHR variants: I160T, a known pathologic variant, and N558H, which has never been previously reported. As there was no ovarian response to high daily doses of exogenous gonadotropins, IVM was proposed to the patient with success and she finally delivered at term a healthy boy. Effects of the receptor variants were analyzed in heterologous cells. Whereas the I160T mutation blocked FSHR membrane trafficking and FSH-stimulated cAMP-dependent signaling in transfected CHO cells, the novel variant, N558H, functioned equivalently to wild-type FSHR in the assays employed. In conclusion, IVM should always be offered as a first-line therapy to infertile women presenting with GROS. The N558H variant discovered in FSHR is novel, but its functional significance, if any, is unresolved and merits further investigation as it may be associated with a recessive FSHR-related disorder