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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 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.

Mapping breastfeeding and COVID-19 related content and engagement on Facebook: Results from an online social listening study

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.

Use of linked administrative and laboratory data to confirm that serum 25(OH)D levels in pregnant women can be predicted from satellite estimates of ultraviolet radiation

Serum 25 hydroxyvitamin D [25(OH)D] levels of pregnant women have been linked to various health outcomes in their offspring. Satellite-derived ultraviolet radiation (UVR) data have been used as a proxy for 25(OH)D levels, as individual-level cohort studies are time-consuming, costly and only feasible for common outcomes.

Four BrightSpark Fellowships awarded to early-career researchers at The Kids

Congratulations to four outstanding early-career researchers from The Kids Research Institute Australia, who have been awarded BrightSpark Foundation fellowships and project funding for 2026.

COVID-19 resources

We know many families have questions about the risk of COVID-19 to children with type 1 diabetes. To address these questions, Perth Children’s Hospital’s Diabetes Clinic has provided information and resources to help you navigate this tricky period.

'Artificial pancreas' helps ease diabetes burden

The Centre is currently involved in an international effort to develop revolutionary closed- loop 'artificial pancreas' technology. It is also leading a multi-centre Australian trial of these portable devices at home in young people with diabetes.

Visit our Discovery Centre in the holidays

Beat the heat these school holidays by visiting the The Kids Discovery Centre.v

Safe use of mobile phones with T1D

The advancement of technology to assist the daily routine of diabetes is extremely helpful. However, it is important to create clear boundaries in the use of technology. Our social work team have some great tips to set up healthy routines.

Setting smart phone rules

Mobile phones are an important part of diabetes management but its also important to set some family rules for your child's technology use.

The use of automated insulin delivery around physical activity and exercise in type 1 diabetes: a position statement of EASD and ISPAD

Regular physical activity and exercise (PA) are cornerstones of diabetes care for individuals with type 1 diabetes. In recent years, the availability of automated insulin delivery (AID) systems has improved the ability of people with type 1 diabetes to achieve the recommended glucose target ranges. PA provide additional health benefits but can cause glucose fluctuations, which challenges current AID systems.