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Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants

A 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the lit…

Continuous glucose monitoring has an increasing role in pre-symptomatic type 1 diabetes: Advantages, limitations, and comparisons with laboratory-based testing

Type 1 diabetes is well-recognised as a continuum heralded by the development of islet autoantibodies, progression to islet autoimmunity causing beta…

Outcomes and experiences of families with children with type 1 diabetes on insulin pumps through subsidised pump access programs in Western Australia

In Australia, access to insulin pump therapy for children with type 1 diabetes is predominantly restricted to families with private health insurance.…

COVID-19 in Western Australia: ‘The last straw’ and hopes for a ‘new normal’ for parents of children with long-term conditions

Children with long-term conditions are vulnerable due to the treatments required for their conditions. Since the start of the coronavirus disease 201…

‘It’s been a lifelong thing for me’: parents’ experiences of facilitating a healthy lifestyle for their children with severe obesity

For parents and guardians, assisting children/adolescents with severe obesity to lose weight is often a key objective but a complex and difficult cha…

Measures of Early-life Behavior and Later Psychopathology in the LifeCycle Project-EU Child Cohort Network: A Cohort Description

The EU LifeCycle Project was launched in 2017 to combine, harmonize, and analyze data from more than 250,000 participants across Europe and Australia…

A surge in serum mucosal cytokines associated with seroconversion in children at risk for type 1 diabetes

Autoantibodies to pancreatic islet antigens identify young children at high risk of type 1 diabetes. On a background of genetic susceptibility, islet…

Prevalence and characteristics of paediatric X-linked hypophosphataemia in Australia and New Zealand: Results from the Australian and the New Zealand Paediatric Surveillance Units survey

X-linked hypophosphataemia (XLH) is the most common heritable form of rickets. Prevalence data varies across the literature between 1 in 20,000 and 1…

Childhood-onset type 1 diabetes in Western Australia: An update on incidence and temporal trends from 2001 to 2022

To determine the incidence and incidence trends over 2001-2022 of childhood-onset type 1 diabetes (T1D) in Western Australia and assess the impact of…

Physical activity management for youth with type 1 diabetes: Supporting active and inactive children

Regular physical activity and exercise are important for youth and essential components of a healthy lifestyle. For youth with type 1 diabetes, regul…