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Introduction: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between studies. We hypothesized that the molecular yield of targeted NGS would depend on the severity of CH., Methods: Targeted NGS was performed in 103 CH-GIS patients from the French national screening program referred to the Reference Center for Rare Thyroid Diseases of Angers University Hospital. The custom targeted NGS panel contained 48 genes. Cases were classified as solved or probably solved depending on the known inheritance of the gene, the classification of the variants according to the American College of Medical Genetics and Genomics, the familial segregation, and published functional studies. Thyroid-stimulating hormone at CH screening and at diagnosis (TSHsc and TSHdg) and free T4 at diagnosis (FT4dg) were recorded., Results: NGS identified 95 variants in 10 genes in 73 of the 103 patients, resulting in 25 solved cases and 18 probably solved cases. They were mainly due to mutations in the TG (n = 20) and TPO (n = 15) genes. The molecular yield was, respectively, 73% and 25% if TSHsc was ≥ and < 80 mUI/L, 60% and 30% if TSHdg was ≥ and < 100 mUI/L, and 69% and 29% if FT4dg was ≤ and > 5 pmol/L., Conclusion: NGS in patients with CH-GIS in France found a molecular explanation in 42% of the cases, increasing to 70% when TSHsc was ≥ 80 mUI/L or FT4dg was ≤ 5 pmol/L., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society.)

Background: The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental markers associated with T1D., Methods: Cases were children with T1D from the French Isis-Diab cohort. Controls were schoolmates or friends of the patients. Parents were asked to fill a 845-item questionnaire investigating the child's environment before diagnosis. The analysis took into account the matching between cases and controls. A second analysis used propensity score methods., Results: We found a negative association of several lifestyle variables, gastroenteritis episodes, dental hygiene, hazelnut cocoa spread consumption, wasp and bee stings with T1D, consumption of vegetables from a farm and death of a pet by old age., Conclusions: The found statistical association of new environmental markers with T1D calls for replication in other cohorts and investigation of new environmental areas., Trial Registration: Clinical-Trial.gov NCT02212522 . Registered August 6, 2014.

Unlabelled: Malformative uropathies diagnosed in utero are increasing in number. This work describes the decision strategy adopted in Angers concerning the neonatal handling of those abnormalities., Patients and Methods: One hundred children born between 1988 and 1990, with prenatally suspected fetal uropathy, were included in the study and followed for a period of 3 years. In every case, an ultrasound scan was performed at birth. In cases with persistent abnormality, a voiding cystourethrography was done in the first week of life. An intravenous urograph and/or a nuclear renography were performed during the second month of life., Results: Twenty-nine children were normal. Seventy-one were affected by 126 isolated or related uropathies; the most frequent ones were the ureteropelvic junction obstruction syndrome (48), ureterovesical junction obstruction (18) and multicystic kidneys (13). A vesicoureteral reflux was associated in 22% of cases. The diagnosis was perfectly correlated with the prenatal diagnosis in 50% of cases. Fourteen of the normal children had a later ultrasound scan control, between 2 and 9 months; later on, three of them showed a moderate ureteropelvic junction obstruction syndrome. Amongst the 48 ureteropelvic junction obstruction syndromes, 22% have been operated on. The others obstructive uropathies remained stable or spontaneously improved., Discussion: These results require us to discuss as matter of priority the large number of spontaneously regressive prenatal hydronephrosis and the necessity to establish a consensus for the pre and postnatal pathological thresholds of the anteroposterior pelvic diameter, the interest in carrying out a voiding cystography after the birth when dilatation is confirmed, the interest of nuclear renography for the diagnosis and follow-up of obstructive uropathies and the absence of urgency for surgery., Conclusion: We propose a decision tree specifying the action to take when facing the diagnosis of a prenatal hydronephrosis. It could be a part of the reflection for the medical teams handling these uropathies is the aim of a consensual attitude which is now essential.

Background: Pseudomembranous colitis is a rare and serious complication of treatment by antibiotics. The case of a patient with a protracted pseudomembranous colitis followed by two relapses is reported., Case Report: A 4 year-old boy was admitted after 18 days of profuse and feverish diarrhea. He had been given amoxycillin for 10 days, one and a half months previously. His temperature was 40 degrees C; he had abdominal pain and leucocytosis was 30,000/mm3. The situation rapidly improved with digestive rest and i.v. antibiotic therapy. Relapse of diarrhea together with bilious vomiting and acute abdominal pains required readmission three days after his discharge. Search for Clostridium difficile in stools remained negative. The diagnosis of pseudomembranous colitis was confirmed by sigmoidoscopy and intestinal biopsy. The patient was given parenteral nutrition for 3 weeks and vancomycin. The disease was complicated by anasarca related to severe protein-loosing enteropathy but evolution was finally favourable after a two month period., Conclusion: Pseudomembranous colitis remains a serious affection in childhood; its prognosis largely depends on the precocity of diagnosis and treatment.