[Severity of new-onset type 1 diabetes in children and adolescents during the coronavirus-19 disease pandemic]. / Gravedad al comienzo de la diabetes tipo 1 en niños y adolescentes durante la pandemia por la enfermedad por coronavirus-19.

Introduction: ß-pancreatic cells are susceptible to SARS-CoV-2 infection and replication; this could lead to infection-related diabetes or precipitate the onset of type 1 diabetes. This study aimed to determine the severity at diagnosis, analyzing clinical and epidemiological features at onset in children under 16 years of age in the context of the SARS-CoV-2 pandemic. Material and methods: A retrospective observational multicenter study was carried out in 7 hospitals of the public health network located in the south of our community. The severity at debut is compared with that of the two previous years (2018 and 2019). The level of statistical significance is set at P < .05. Results: In 2020, 61 patients were diagnosed at the 7 hospital centres. The mean age was 10.1 years (SD: 2.6), 50.8% were older than 10 years. The clinical profile at diagnosis was ketoacidosis in 52.5% compared to 39.5% and 26.5% in the previous two years (P < .01). The mean pH (7.24 vs 7.30 / 7.30) and excess of bases (-11.9 vs -7.43 / -7.9) was lower than in the previous two years, and the glycated haemoglobin higher (11.9 vs 11 / 10.6)%, p < 0.05. At least 10% of the patients had a positive history of SARS-CoV-2 infection. Conclusions: There has been an increase in the frequency of diabetic ketoacidosis in type 1 diabetes onset during the first year of the COVID-19 pandemic.

Severity of new-onset type 1 diabetes in children and adolescents during the coronavirus-19 disease pandemic.

INTRODUCTION: ß-pancreatic cells are susceptible to SARS-CoV-2 infection and replication; this could lead to infection-related diabetes or precipitate the onset of type 1 diabetes. This study aimed to determine the severity at diagnosis, analyzing clinical and epidemiological features at debut in children under 16 years of age in the context of the SARS-CoV-2 pandemic. MATERIAL AND METHODS: A retrospective observational multicenter study was carried out in 7 hospitals of the public health network located in the south of our community. The severity at debut is compared with that of the two previous years (2018 and 2019). The level of statistical significance is set at p<0.05. RESULTS: In 2020, 61 patients debuted at the 7 hospital centres. The mean age was 10.1 years (SD: 2.6), 50.8% older than 10 years. The clinical profile at diagnosis was ketoacidosis in 52.5% compared to 39.5% and 26.5% in the previous two years (p<0.01). The mean pH (7.24 vs 7.30/7.30) and excess of bases (-11.9 vs -7.43/-7.9) was lower than in the previous two years, and the glycated haemoglobin higher (11.9 vs 11/10.6), p<0.05. At least 10% of the patients had a positive history of SARS-CoV-2 infection. CONCLUSIONS: There has been an increase in the frequency of diabetic ketoacidosis in type 1 diabetes onset during the first year of the COVID-19 pandemic.

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

CONTEXT: Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and mild hand and feet skeletal anomalies with short stature. Genetic screening in individuals with short stature and mild skeletal anomalies has been increasing over recent years, allowing us to broaden the clinical spectrum of skeletal dysplasias. OBJECTIVE: The objective of this article is to describe the genotype and phenotype of 16 probands with heterozygous variants in IHH. PATIENTS AND METHODS: Targeted next-generation sequencing or Sanger sequencing was performed in patients with short stature and/or brachydactyly for which the genetic cause was unknown. RESULTS: Fifteen different heterozygous IHH variants were detected, one of which is the first reported complete deletion of IHH. None of the patients showed the classical phenotype of brachydactyly type A1. The most frequently observed clinical characteristics were mild to moderate short stature as well as shortening of the middle phalanx on the fifth finger. The identified IHH variants were demonstrated to cosegregate with the short stature and/or brachydactyly in the 13 probands whose family members were available. However, clinical heterogeneity was observed: Two short-statured probands showed no hand radiological anomalies, whereas another 5 were of normal height but had brachydactyly. CONCLUSIONS: Short stature and/or mild skeletal hand defects can be caused by IHH variants. Defects in this gene should be considered in individuals with these findings, especially when there is an autosomal dominant pattern of inheritance. Although no genotype-phenotype correlation was observed, cosegregation studies should be performed and where possible functional characterization before concluding that a variant is causative.