Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study.

PURPOSE: Human chorionic gonadotropin stimulates fetal testosterone production and contributes to normal development of male genitalia. Using population based data we hypothesized that differences in maternal free beta human chorionic gonadotropin may be associated with hypospadias. MATERIALS AND METHODS: Data were obtained from the Paris Registry of Congenital Malformations (REMAPAR) (2011 to 2016). The initial study population included 3,172 pregnant women who gave birth to a singleton live born male infant with a congenital malformation. After exclusion of cases with unknown beta human chorionic gonadotropin and those with chromosomal or genetic abnormalities, the study population included 194 boys with isolated hypospadias and 1,075 controls. For cases with operative notes (125) we obtained data on type (proximal/distal) of hypospadias. Using quantile regression we compared median values of multiple of median beta human chorionic gonadotropin measured for first trimester Down syndrome screening (10th to 13th gestational weeks) for overall as well as by type of hypospadias vs controls. We also considered possible effects of placental dysfunction (maternal age, intrauterine growth retardation and preterm births) as potential confounding factors. RESULTS: Overall the median beta human chorionic gonadotropin multiple of median was comparable for women who had an infant with hypospadias vs controls (0.99 vs 0.95, p=0.3). However, proximal hypospadias was associated with a statistically significant higher median multiple of median than distal hypospadias or unspecified (1.49 vs 0.92 vs 1.05, p=0.02). The estimates were comparable after adjustment for placental dysfunction. CONCLUSIONS: Our findings support the hypothesis that an alteration in maternal beta human chorionic gonadotropin levels is associated with hypospadias. However, this association appears to be limited to proximal hypospadias.

Redo Laparoscopic Pyeloplasty in Infants and Children: Feasible and Effective.

Purpose: To determine the feasibility and effectiveness of redo laparoscopic pyeloplasty among patients with failed previous pyeloplasty, specifically examining rates of success and complications. Materials and Methods: We retrospectively reviewed the charts of all patients, who underwent redo laparoscopic pyeloplasty from 2006 to 2017. This included patients who underwent primary pyeloplasty at our institution and those referred for failures. Analysis included demographics, operative time, complications, length of hospital stay, complications, and success. Success was defined as improvement of symptoms and hydronephrosis and/or improvement in drainage demonstrated by diuretic renogram, especially in those with persistent hydronephrosis. Descriptive statistics are presented. Results: We identified 22 patients who underwent redo laparoscopic pyeloplasty. All had Anderson-Hynes technique except two cases in which ureterocalicostomy was performed. Median (IQR) follow-up was 29 (2-120) months, median time between primary pyeloplasty and redo laparoscopic pyeloplasty was 12 (7-49) months. The median operative time was 200 (50-250) min, and median length of hospital stay was 3 (2-10) days. The procedure was feasible in all cases without conversion. During follow-up, all but two patients demonstrated an improvement in the symptoms and the degree of hydronephrosis. Ninety-one percent of patients experienced success and no major complications were noted. Conclusions: Redo laparoscopic pyeloplasty is feasible and effective with a high success rate and low complication rate.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity.

CONTEXT: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the gene AIRE (autoimmune regulator). APECED affects mainly endocrine organs resulting in hypoparathyroidism, adrenocortical failure, diabetes mellitus, hypogonadism, and hypothyroidism. Nonendocrine organ manifestations are autoimmune hepatitis, vitiligo, pernicious anemia, exocrine pancreatic insufficiency, and alopecia. APECED's first manifestation generally is mucocutaneous candidiasis presumably related to T cell dysfunction. PATIENT: A 5-yr-old Iranian girl presented first with pernicious anemia, exocrine pancreatic insufficiency, and nail candidiasis. She had renal dysfunction due to chronic interstitial nephritis (CIN), which progressed to end-stage renal failure. She was transplanted 1 yr later. Common causes of CIN were excluded. APECED was suspected first because she developed progressively hypoparathyroidism, adrenocortical failure, glucose intolerance, and hypothyroidism. RESULTS: Genetic analysis revealed a large homozygous deletion (g.424_2157del1734), spanning exons 2-4, in the AIRE gene. The predicted protein, if it is produced, has only 44 amino acids (exon 1) in common with the wild-type protein. Immunosuppression after the first renal transplant included prednisone, azathioprine, and cyclosporine A. Multiple acute rejection episodes occurred. Chronic rejection resulted in lost graft and she was retransplanted 2 yr later. Surprisingly, all APECED-related symptoms including candidiasis and autoantibody levels decreased, presumably due to the reinforced immunosuppression (tacrolimus, mycophenolate mofetil, prednisone). CONCLUSIONS: This is the first report of an APECED patient with CIN resulting in end-stage renal failure. Clinical and biological improvement was observed under posttransplant multidrug immunosuppression including tacrolimus and mycophenolate mofetil.

[Impalpable testis: value of one-stage surgical descent]. / Testicules non palpés : intérêt de l'abaissement en un temps chirurgical.

OBJECTIVE: The objective of this retrospective study was to assess the value of one-stage testicular descent without spermatic vessel ligation for intraabdominal impalpable testis. MATERIAL AND METHOD: This study was based on 90 children with 98 impalpable testes. Laparoscopic exploration was performed in each case. Forty-three testes were intra-abdominal and 55 were absent. One-stage surgical descent with vertical opening of the conjoined tendon and without spermatic vessel ligation was performed for 22 testes and two-stage descent (Fowler-Stephens two-stage technique) was performed for 16 testes. Three testes in bilateral forms are still waiting for treatment. RESULTS: With a mean follow-up of 17 months (range: 1 month to 8 years), 18 of the 22 testes (81%) were situated in the scrotum and were viable in the one-stage treatment group, versus 10 out of 16 (62.5%) in the two-stage group. Two poor results, including one case of necrosis, were observed after one-stage testicular descent. Six poor results, including two cases of necrosis, were observed after the Fowler-Stephens two-stage technique. CONCLUSION: One-stage testicular descent, without spermatic vessel ligation, after laparoscopic assessment of the presence and position of the testis, can be performed in the majority of cases of impalpable testis. The risks of failure due to secondary atrophy or incomplete testicular descent are minimal with this technique. One-stage surgical descent, when possible, appears to be preferable to the Fowler-Stephens two-stage procedure.

Percutaneous retrograde endovascular occlusion for pediatric varicocele.

BACKGROUND/PURPOSE: The aim of this study was to assess whether percutaneous retrograde endovascular occlusion (PREVO) is effective and safe for the treatment of varicocele in pediatric patients. METHODS: We retrospectively studied 71 children who underwent PREVO for left-sided varicocele. The primary outcome was the proportion of varicocele-free patients 6 months after PREVO as assessed by ultrasonography. RESULTS: Seventy-one boys with left-sided grade III varicocele underwent PREVO at a mean age of 13.2 years. PREVO was performed under local anesthesia in all boys but 2, who required general anesthesia. The procedure was technically feasible in 68 (96%) patients. In the remaining 3 patients, the internal spermatic vein could not be catheterized. Minor short-term complications occurred in 6 patients and resolved fully. No major complications or deaths were recorded. The proportion of varicocele-free patients 6 months after PREVO was 93% (66/71) overall and 97% (66/68) in the patients whose PREVO procedure was feasible. No clinical recurrence was observed during the mean follow-up of 17.5 months. CONCLUSIONS: Percutaneous retrograde endovascular occlusion is an effective minimally invasive approach for varicocele treatment in pediatric patients. It can be safely performed on an outpatient basis under local anesthesia.

Fetal and neonatal ovarian cysts: is surgery indicated?

OBJECTIVES: To evaluate the frequency of ovarian torsion in neonates with ovarian cysts (OCs) and to analyze the outcome after surgical treatment. METHODS: A retrospective review of all infants with OCs managed in our institution during 20 years, was conducted. Our management included a follow-up (FU) of prenatal serial ultrasound (US) scan without prenatal cyst aspiration and early postnatal US scan. Neonatal surgery was indicated for cysts that appeared complex regardless of size and for simple cysts larger than 20 mm. RESULTS: Sixty-seven OCs detected through prenatal diagnosis were identified. Cysts were detected at a median gestational age (GA) of 33 weeks. At diagnosis, median size of the OCs was 40 mm, and 18% were complex. On the postnatal US scan, 55% were complex. Neonatal surgery was performed for 64 OCs : 56% were torsed, 6% were hemorrhagic, and 38% were uncomplicated. Proportions of complex- and simple-appearing cysts on prenatal or postnatal US scan were the only significantly different parameters found between infants with torsed or not torsed OC. CONCLUSION: Our study demonstrated that OC bears a high risk of ovarian loss. These findings have implications regarding information and treatment offered to pregnant women bearing an affected fetus.