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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.

Participant and caregiver perspectives on health feedback from a healthy lifestyle check

The usual output following health consultations from paediatric services is a clinical letter to the referring professional or primary care provider, with a copy sent to the patient's caregiver. There is little research on how patients and caregivers perceive the letter content.

Our team

See an overview of the people involved in the Children's Diabetes Centre, including co-directors, research focus area leads, research staff and students

Our research

Our Centre is involved with a wide range of research projects, many involving collaborating with partners to run trials of new technologies and treatments.

Student and Funding Opportunities

The Children's Diabetes Centre provides student opportunities for integrated research and clinical projects across all our research areas.

Nutrition

Our researchers are trying to learn more about the effect different types of food have on blood glucose levels and how to give the best insulin dose to manage a variety of foods.

Epidemiology and Pre-Diabetes

Our research group is looking for patterns in newly diagnosed diabetic patients in WA to understand the characteristics and risk factors of children with T1D.

Be involved

Find out how to participate in our research and community group