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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.

Experiences of Caregivers and At-Risk Children Enrolled in a Prospective Pregnancy-Birth Cohort Study into the Causes of Type 1 Diabetes: The ENDIA Study

We sought research experiences of caregivers and their children were enrolled in the Environmental Determinants of Islet Autoimmunity (ENDIA) study.

CGM accuracy: Contrasting CE marking with the governmental controls of the USA (FDA) and Australia (TGA): A narrative review

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.

An Assessment of Clinical Continuous Glucose Monitoring Targets for Older and High-Risk People Living with Type 1 Diabetes

To assess relationships between continuous glucose monitoring (CGM) time in range (TIR), 70-180 mg/dL, time below range (TBR), <70 mg/dL, time above range (TAR), >180 mg/dL, and glucose coefficient of variation (CV) in relation to currently recommended clinical CGM targets for older people, which recommend reduced TIR and TBR targets relative to the general type 1 diabetes population. 

ISPAD Clinical Practice Consensus Guidelines 2022: Assessment and management of hypoglycemia in children and adolescents with diabetes

Tim Jones MBBS DCH FRACP MD Co-head, Diabetes and Obesity Research Co-head, Diabetes and Obesity Research Areas of research expertise: Diabetes

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.

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.

Impact of Body Composition on the Accuracy of a Medtronic Guardian Continuous Glucose Monitoring System

Continuous glucose monitoring systems are used in therapeutic decisions for diabetes management, however, the impact of body composition on CGM accuracy is not known. Body composition variables were collected in an observational study designed to determine the accuracy of an investigational Medtronic Guardian™ sensor 3.

Transition models of care for type 1 diabetes: a systematic review

Managing the care regimen for Type 1 Diabetes is challenging for emerging adults, as they take on greater responsibility for self-management. A diverse range of models of care have been implemented to improve safety and quality of care during transition between paediatric and adult services. However, evidence about acceptability and effectiveness of these is limited.