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Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del VariantsA 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the literature as pathogenic and dominant. The same mutation was found in his son at birth, but the testing of the infant at 64 days confirmed the hormonal changes associated with minipuberty.

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What life is like living with type 1 diabetesEvery decision a child with type 1 diabetes makes can impact on their blood glucose levels.
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The effect of oral insulin on subcutaneous insulin requirements and glycaemia in T1DMLiz Tim Davis Jones MBBS FRACP PhD MBBS DCH FRACP MD Co-director of Children’s Diabetes Centre Co-head, Diabetes and Obesity Research Co-director of
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Hypoglycaemia, cardiovascular disease, and mortality in diabetes: epidemiology, pathogenesis, and managementStudy findings have suggested that hypoglycaemia is associated with an increased risk of cardiovascular events and mortality
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Incidence of and risk factors for hospitalisations due to vascular complications: A population-based type 1 diabetes cohort (n=1316) followed into early adulthoodDetermining the incidence of hospitalisations and risk factors for vascular complications experienced during early adulthood in patients with childhood T1D
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DNA methylation patterns within whole blood of adolescents born from assisted reproductive technology are not different from adolescents born from natural conceptionStudy question: Do the epigenome-wide DNA methylation profiles of adolescents born from ART differ from the epigenome of naturally conceived counterparts? Summary answer: No significant differences in the DNA methylation profiles of adolescents born from ART [IVF or ICSI] were observed when compared to their naturally conceived, similar aged counterparts.
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ACE inhibitors and statins in adolescents with type 1 diabetesWe hypothesized that adolescents with high levels of albumin excretion might benefit from ACE inhibitors and statins, drugs that have not been fully evaluated
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Home-based vs inpatient education for children newly diagnosed with type 1 diabetesWith adequate support, children newly diagnosed with Type 1 Diabetes can be safely managed at home following practical skills training
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A 10-second sprint does not blunt hormonal counter-regulation to subsequent hypoglycaemiaA 10-second sprint is unlikely to blunt the subsequent hormonal counter-regulation to hypoglycaemia in individuals with Type 1 diabetes
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High-dose intramuscular Vitamin D provides long-lasting moderate increases in serum 25-hydroxVitamin D levels and shorter-Term changes in plasma calciumIntramuscular injection of a large bolus of Vitamin D effectively increases serum 25-hydroxyVitamin D levels without evidence of metabolic abnormality.