Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series.

BACKGROUND: we aim to discuss the origin and the differences of the phenotypic features and the management care of rare form of disorder of sex development due to Mosaic monosomy X and Y chromosome materiel. METHODS: We report our experience with patients harboring mosaic monosomy X and Y chromosome material diagnosed by blood cells karyotypes and cared for in our department from 2005 to 2022. RESULTS: We have included five infants in our study. The current average age was 8 years. In four cases, the diagnosis was still after born and it was at the age of 15 years in one case. Physical examination revealed a variable degree of virilization, ranging from a normal male phallus with unilateral ectopic gonad to ambiguous with a genital tubercle and bilateral not palpable gonads in four cases and normal female external genitalia in patient 5. Karyotype found 45, X/46, XY mosaicism in patient 1 and 2 and 45, X/46, X, der (Y) mosaicism in patient 3, 4 and 5. Three cases were assigned to male gender and two cases were assigned to female. After radiologic and histologic exploration, four patients had been explored by laparoscopy to perform gonadectomy in two cases and Mullerian derivative resection in the other. Urethroplasty was done in two cases of posterior hypospadias. Gender identity was concordant with the sex of assignment at birth in only 3 cases. CONCLUSION: Because of the phenotypic heterogeneity of this sexual disorders and the variability of its management care, then the decision should rely on a multidisciplinary team approach.

Elective surgery cancellations in pediatric surgery: rate and reasons.

INTRODUCTION: Canceling pediatric elective surgery leads to multiple disturbances regarding the inefficient operating room (OR) management, the financial repercussions, and the psychological impact on the patient and his family. This study aims to identify the reasons for cancellations among the pediatric population in our setting and suggest some convenient solutions. METHODS: We carried out a prospective and descriptive study over 12 months in the pediatric surgery department of Fattouma Bourguiba University Hospital. RESULTS: One thousand four hundred twenty-six patients were scheduled for surgery at the pediatric surgery department, of whom 131 (9.2%) were canceled. Medical and anesthesia-related reasons accounted for 62.5% of all cancellations, followed by surgical reasons at 16%, organizational or administrative issues at 11.5%, and patient-related reasons at 10%. The most significant causes were upper respiratory tract infections (URTIs) in 36.6%, abnormal blood test results in 16%, and non-adherence to preoperative fasting in 9.2%. CONCLUSIONS: The rate of pediatric elective surgery cancellations at Fattouma Bourguiba University Hospital was higher than the accepted average rate (5%). Therefore, to prevent these cancellations as much as possible, efforts should be made to promote children's medical care, operation scheduling, and efficient institution resource utilization.

Intussusception Caused by Heterotopic Pancreas: A Tunisian Case Series of 5 Pediatric Patients.

Heterotopic pancreas (HP) is a rare congenital developmental anomaly of the gastro-intestinal tract, defined as the presence of pancreatic tissue found in ectopic sites. Intussusception caused by isolated HP is extremely rare. Pediatric reports concerning this pathology are case reports. Here, we report cases of secondary intussusception, in which conservative treatment failed and surgery was performed. The aim of this review is to study the epidemiologic and clinical aspects of HP in pediatric patients from our institution. We retrospectively collected patients who were treated in the pediatric surgery department for intussusception caused by HP, from January 1986 to November 2018. We investigated five patients, three boys and two girls, aged 5 months to 2 years. The diagnosis was made incidentally during the operation. HP was found in the jejunum in three cases and in the ileum in two cases. HP was removed. The postoperative course was uneventful. Although rare, HP should be included in the differential diagnosis of gastrointestinal diseases, causing secondary bowel intussusception.

[Ureterocele associated with simplex ureter in children: clinical and therapeutic features]. / Urétérocèle sur uretère simplex chez l'enfant: aspects cliniques et thérapeutiques.

Ureterocele is a pseudo-cyst dilation of the terminal submucosal ureter. It is a rare malformative uropathy, in particular associated with simplex ureter. We conducted a retrospective study over a period of 10 years. Twelve medical records of patients whose data were collected at the Department of Paediatric Surgery of Monastir between 2006 and 2016 were examined. The average age of patients was 2.7 years (ranging from 7 days to 11 years) with a sex ratio of 1. Patients´ clinical status was dominated by fever due to upper urinary tract infection. Diagnosis was mainly based on renal bladder ultrasound, intravenous urography (IVU) and retrograde urethrography and cystography. Ureterocele was unilateral in 10 cases and bilateral in 2 cases (on a total of 14 cases). It was associated with simplex ureter in all cases and all patients underwent endoscopic surgery. No perioperative adverse event was reported. The postoperative course was uneventful. Clinical and radiological improvements were reported in all cases. Ureterocele associated with simplex ureter is a very rare urinary abnormality. Early diagnosis is essential to avoid upper urinary tract involvement. Endoscopic treatment is a good alternative leading to satisfactory results.

Biliary atresia: experience of a nord africain center.

BACKGROUND: Biliary atresia (BA) is a progressive inflammatory destructive process of the bile ducts occurring in about one of every 20.000 live births. If left untreated, biliary atresia can lead to liver failure. AIM: This is the first study on biliary atresia from Africa. The Aim of our study is to describe the clinical and prognostic aspects of biliary atresia in a Tunisian medical centre, where integrated medico-surgical management of children with liver diseases is lacking and liver transplant is not available. METHODS: Patients who were diagnosed with BA and underwent portoenterostomy between January 1985 and December 2010 at a tertiary regional hospital in Tunisia were included in this analysis. RESULTS: 74 patients were diagnosed with BA. The patients included 34 boys (45.9%) and 40 girls (54.1%). All patients received Kasai operation as the primary treatment and the median patient age at Kasai operation was 60 days (range 3-180 days). The median followup time for the patients was 72 months (range 2 months-23 years 6 months). Out of the 74 patients who received Kasai operation, 49 patients are being followed regularly in the outpatient clinic. Eight patients died immediately after Kasai operation by either hepatocellular decompensation or by cholangitis. Seventeen patients were lost to follow-up. Fifteen out of 49 patients who underwent portoenterostomy for BA are alive at median six years following Kasai intervention. Ten patients out of the 49 who are being followed regularly were Jaundice free. Two patients had portal hypertension. All these patients had survived. Five patients survived with signs of liver failure in four cases. Two of them had received a liver transplant abroad. Survival with the native liver was 6.7 % at 5 years with Kasai operation alone. CONCLUSION: BA still has a very severe prognosis in Tunisia Reducing the age at Kasai operation remains the most important target to reduce the need for LT in infancy and childhood. Centralised care will help to build surgical expertise.

Video-assisted surgery in the management of hydatid renal cyst in children.

Renal hydatid disease is rare in children. Open surgery is the traditional method of treatment, but minimally invasive techniques are being increasingly used. Herein, we report our experience with laparoscopic management of renal hydatid cyst in four children via a transperitoneal approach in three cases and a retroperitoneoscopy in one. We conclude that transperitoneal laparoscopy can be offered for the management of hydatid renal cyst associated with other intraperitoneal localizations, whereas the retroperitoneoscopy is limited for the treatment of isolated hydatid renal cysts.