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A 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.
The COVID-19 pandemic has seen evidence and advice evolve quickly. Since the start of the pandemic there has been confusion and concern about breastfeeding and COVID-19, and advice for this group has at times been contradictory. The volume of information on social media has exacerbated this. This study aimed to understand breastfeeding-related COVID-19 information sharing on social media during the global and Australian vaccine roll-out.
While advancements in the treatment of diabetes continue to rapidly evolve, many of the newer technologies have financial barriers to care, opposing the egalitarian ethos of Banting who sold his patent on insulin for a nominal cost to allow it to be made widely available. Inequity in access to new therapies drives disparity in diabetes burden with potential for these gaps to widen in the future.
To examine the psychometric properties of the Diabetes Management Experiences Questionnaire (DME-Q). Adapted from the validated Glucose Monitoring Experiences Questionnaire, the DME-Q captures satisfaction with diabetes management irrespective of treatment modalities.
Family-based lifestyle interventions for children/adolescents with severe levels of obesity are numerous, but evidence indicates programs fail to elicit short- or longer-term weight loss outcomes. Families with lived experience can provide valuable insight as we strive to improve outcomes from programs. Our aim was to explore elements that families desired in a program designed to treat severe levels of obesity in young people.
Reducing carbohydrate (CHO) intake is being used as an approach to manage type 1 diabetes (T1D) in children. This study aimed to investigate the experiences and attitudes of parents of children with T1D who are reducing CHO intake to help manage blood glucose levels.
The National Institute for Clinical Excellence updated guidance for continuous glucose monitoring (CGM) in 2022, recommending that CGM be available to all people living with type 1 diabetes. Manufacturers can trade in the UK with Conformité Européenne (CE) marking without an initial national assessment. The regulatory process for CGM CE marking, in contrast to the Food and Drug Administration (FDA) and Australian Therapeutic Goods Administration (TGA) process, is described.
Technology use, including continuous glucose monitoring (CGM) and insulin pump therapy, is associated with improved outcomes in youth with type 1 diabetes (T1D). In 2017 CGM was universally funded for youth with T1D in Australia. In contrast, pump access is primarily accessed through private health insurance, self-funding or philanthropy.
For parents and guardians, assisting children/adolescents with severe obesity to lose weight is often a key objective but a complex and difficult challenge. Our aim in this study was to explore parents' (and guardians') perspectives on the challenges they have faced in assisting their children/adolescents with severe obesity to lead a healthy lifestyle.
In Australia, access to insulin pump therapy for children with type 1 diabetes is predominantly restricted to families with private health insurance. In an attempt to improve equity, additional subsidised pathways exist which provide pumps to families with reduced financial resources. We aimed to describe the outcomes and experiences of families with children commenced on pumps through these subsidised pathways in Western Australia.