Isolated Fallopian Tube Torsion in Children With Hydrosalpinx: Is Conservative Management an Option?

Background: Isolated fallopian tube torsion (IFTT) is very rare gynecological emergency in pediatric population. Our objective is to assess treatment options and discuss outcome of a cohort of IFTT with a focus on the association between IFTT and hydrosalpinx (HSX).

Methods: A retrospective review was conducted.

Ultrafast cadmium-zinc-telluride-based renal single-photon emission computed tomography: clinical validation.

Background: One of the main limitations of technetium-dimercaptosuccinic acid (DMSA) scan is the long acquisition time.

Objective: To evaluate the feasibility of short DMSA scan acquisition times using a cadmium-zinc-telluride-based single-photon emission computed tomography (SPECT) system in children.

Materials And Methods: The data of 27 children (median age: 4 years; 16 girls) who underwent DMSA SPECT were retrospectively analyzed.

Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency.

Context: Determination of steroid levels in the amniotic fluid gives some insight on fetal adrenal and gonadal functions.

Objective: Our objectives were to establish reference ranges of 12 steroid levels throughout pregnancy and to compare them with steroid levels from pregnancies with fetuses presenting with 21-hydroxylase deficiency (21OHD).

Methods: Liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) was applied to 145 "control" amniotic fluid samples from gynecology activity (12 + 6 to 32 + 4 gestational weeks, GW).

Early detection of ureteropelvic junction obstruction in neonates with prenatal diagnosis of renal pelvis dilatation using H NMR urinary metabolomics.

Renal pelvis dilatation (RPD) is diagnosed in utero on prenatal ultrasonography (US) and can resolve spontaneously. However, isolated RPD can also reflect ureteropelvic junction obstruction (UPJO), which requires surgical treatment to prevent progressive renal deterioration. The diagnosis of UPJO can only be confirmed after birth with repeat US and renal isotope studies.

Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents.

Objectives: Congenital adrenal hyperplasia (CAH) remains one of the most challenging endocrine disorders to diagnose, manage, and treat, especially in Africa where there is lack of neonatal screening program, and limited access to care. Data on biomolecular anomaly are sparse, therefore type of mutations are unknown, increasing management challenges and genetic counseling. The present study aims to describe clinical, biomolecular aspects of a group of Cameroonian patients.

Observational study of disorders of sex development in Yaounde, Cameroon.

Introduction According to the current classification of the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE) of Disorders of Sex Development (DSD), etiologies vary around the world. Ethnic or genetic diversity probably explains this variability. We therefore conducted the present study on etiologies of DSDs in a country from central Africa.

Disorder of sex development with germ cell tumors: Which is uncovered first?

Background: Disorders of sex development (DSD) are rare conditions. Although they are known to predispose to germ cell tumors (GCT), there is a paucity of information regarding the circumstances of DSD discovery.

Design/methods: All patients with DSD registered in two French pediatric GCT protocols (TGM95 and 13) were analyzed.

[Atypical genital development and tumor risk].

Atypical genital development (AGD), also called disorders of sex development are a set of miscellaneous pathologies who have in common a morphological and/or functional abnormality of the internal and/or external genital organs. The Chicago classification identifies 3 major groups based on karyotype, hormone balance and genetic studies. Some AGD predispose to the occurrence of tumors, mainly malignant germ cell tumors.

Evolution of Newborns' Urinary Metabolomic Profiles According to Age and Growth.

Improving the management of neonatal diseases and prevention of chronic diseases in adulthood requires a better comprehension of the complex maturational processes associated with newborns' development. Urine-based metabolomic studies play a promising role in the fields of pediatrics and neonatology, relying on simple and noninvasive collection procedures while integrating a variety of factors such as genotype, nutritional state, lifestyle, and diseases. Here, we investigate the influence of age, weight, height, and gender on the urine metabolome during the first 4 months of life.

Prognostic Value of Ultrasound Grading Systems in Prenatally Diagnosed Unilateral Urinary Tract Dilatation.

Purpose: We compared the prognostic value of anteroposterior intrasinus diameter of the renal pelvis, urinary tract dilatation and the Society for Fetal Urology grading system in children with prenatally diagnosed unilateral urinary tract dilatation.

Materials And Methods: All newborns with prenatally diagnosed unilateral urinary tract dilatation, normal bladder and anteroposterior intrasinus diameter 10 mm or greater on the first postnatal ultrasonography were prospectively enrolled from January 2011 to February 2015. Indications for surgery were recurrent febrile urinary tract infections and/or decrease of relative renal function more than 10% on serial isotope studies and/or increasing anteroposterior intrasinus diameter greater than 20% on serial ultrasounds.

Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

Ten years after the consensus meeting on disorders of sex development (DSD), genital surgery continues to raise questions and criticisms concerning its indications, its technical aspects, timing and evaluation. This standpoint details each distinct situation and its possible management in 5 main groups of DSD patients with atypical genitalia: the 46,XX DSD group (congenital adrenal hyperplasia); the heterogeneous 46,XY DSD group (gonadal dysgenesis, disorders of steroidogenesis, target tissues impairments …); gonosomic mosaicisms (45,X/46,XY patients); ovo-testicular DSD; and "non-hormonal/non chromosomal" DSD. Questions are summarized for each DSD group with the support of literature and the feed-back of several world experts.

Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus.

Background: To open vaginal cavity to the pelvic floor is part of surgical treatment for urogenital sinus (UGS) in girls with congenital adrenal hyperplasia (CAH). For high UGS, this operative procedure can be challenging and may jeopardise urinary continence. Combined perineal and laparoscopic approaches could be useful to minimise perineal dissection and to facilitate the vaginal lowering.

Portal vein thrombosis after laparoscopic splenectomy during childhood.

Portal vein thrombosis (PVT) is a rare but potentially life-threatening complication of laparoscopic splenectomy (LS) and can lead to bowel ischemia or portal hypertension. In childhood, this complication is reported in 5-10 % of the cases whereas it can be up to 50 % in adult population. Our aim was to evaluate PVT incidence after LS and associated risks factors.

Mini-invasive surgery for adrenocortical carcinoma in children: is it safe?

Laparoscopy in adrenocortical carcinoma is controversial due to high risk of local recurrence in case of per-operative spillage. We wanted to report the case of a successful laparoscopic transperitoneal adrenalectomy performed in a 3-year-old girl presenting a 5.5-cm adrenocortical carcinoma.

Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.

Pitt-Hopkins syndrome (PTHS) is characterized by distinctive facial dysmorphism, profound intellectual disability, and the possible occurrence of epilepsy and breathing anomalies. It is caused by haploinsufficiency of the TCF4 gene. No significant difference in clinical severity has been reported to date between PTHS patients carrying 18q21 deletions including the TCF4 gene, and those harboring TCF4 point mutations, suggesting a lack of genotype/phenotype correlation.

Transrectal small bowel evisceration after abdominal crush injury.

Transrectal small bowel evisceration (TSBE) is a rare entity that can occur after traumatic injuries. It has been described after impalement, sexual assault, blunt abdominal trauma, and swimming pool drain suction. The authors encountered such a case in a 4-year-old by following a crush abdominal injury.

E-consultation for DSD: a global platform for access to expert advice.

Electronic consultation (e-consultation) has been used for some years to facilitate communication between patients and their doctors, but it is also emerging as a valuable tool aiding communication between clinicians, both primary care and specialists, about a patient's care. Telehealth systems are being developed to provide video consultations to support diagnosis and management, as well as supporting clinical networks and health professional education. In some world regions, it seems increasingly likely that most rare diseases will be managed through a network of centres of expertise, and e-consultation systems may become a vital component of the service provided by these networks.

Urethral duplication in a 12-year-old child.

Urethral duplication is a rare congenital malformation affecting mainly boys. The authors report a case in a Cameroonian child who was diagnosed and managed at the Gynaeco-Obstetric and Paediatric Hospital, Yaounde. The malformation was characterized by the presence of an incontinent epispadic urethra and a normal apical urethra.

The surgical challenges of disorders of sex development (DSD).

Disorders of Sex Development (DSD) remain a fascinating challenge for the paediatricians, endocrinologists, biologists, psychiatrists, geneticists, radiologists, surgeons and for the whole society. This article aims at highlighting the current controversies and questions met with genital reconstruction in children born with abnormal genitalia. The main current techniques of masculinization and feminization are reviewed with their progress and their problems.

Does androgen stimulation prior to hypospadias surgery increase the rate of healing complications? - A preliminary report.

Objective: Androgens have a positive effect on penile growth in children, but they may also have a repressive effect on the healing process. The aim of this prospective study was to compare the outcomes of onlay urethroplasty with and without preoperative androgen stimulation in patients with severe hypospadias.

Patients And Method: Of 300 severe hypospadias cases treated at a single institution, 126 operated on by the same surgeon had complete follow-up data, and 30 of these received preoperative androgen treatment (human chorionic gonadotrophin and/or systemic testosterone) 1-24 months before surgery.

Modified technique of meso-Rex shunt in case of insufficient length of the jugular vein graft.

Unlabelled: Meso-Rex shunt (MRS) can relieve portal hypertension and restore a physiological portal flow in patients with portal vein thrombosis. We describe a technical variant where the autologous internal jugular vein (IJV) was too short to bridge the superior mesenteric vein (SMV) and the Rex recessus.

Patient: A 15-year-old boy with portal cavernoma had several episodes of gastrointestinal bleeding despite repeated sclerotherapy.