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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.
Autoantibodies to pancreatic islet antigens identify young children at high risk of type 1 diabetes. On a background of genetic susceptibility, islet autoimmunity is thought to be driven by environmental factors, of which enteric viruses are prime candidates.
We sought research experiences of caregivers and their children were enrolled in the Environmental Determinants of Islet Autoimmunity (ENDIA) study.
Robust evaluation is critical for understanding and enhancing the impact of health promotion initiatives. However, many community-based organisations face challenges in planning and conducting evaluation due to limitations in knowledge, resources, and the applicability of existing evaluation frameworks. The Healthway Evaluation Framework, and its accompanying practical Measurement Toolkit, was designed to support evaluation planning, implementation, and reporting across diverse health promotion programs and settings.
X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr.
Children and young people with type 1 diabetes (T1D) experience high rates of mental ill health and stress due to the emotional and cognitive energy required to manage their condition. Our team has codesigned Wellbeing T1D, a brief trauma-informed online intervention for adolescents living with T1D. This 5-week intervention will teach skills to promote problem solving, improve emotional regulation and promote helpful thinking and coping.
Islet autoantibodies herald early type 1 diabetes. However, less is known of the evolution of autoantibodies to the islet autoantigen ZnT8. Our primary aim was to characterise the development of islet autoantibodies in a pregnancy-birth at-risk cohort and to provide new knowledge about ZnT8A.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and generalized arterial calcification of infancy (GACI) occur secondary to biallelic ectonucleotide pyrophosphate/phosphodiesterase 1 (ENPP1) loss-of-function pathogenic variants. GACI is a life-threatening condition, often presenting in the neonatal period with heart failure and hypertension, caused by calcification of the media in large- and medium-sized arteries.
To explore trends in the receipt of commonly prescribed medications (beyond insulin) in people with type 1 diabetes in Australia, including polypharmacy, and to investigate socioeconomic disparities across these trends.