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Research

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.

Management

Read about the management staff of the Children's Diabetes Centre, Dr Charles Czank and Nirubasini Paramalingam.

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.

Epidemiology

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.

News & Events

Sports star award

We are proud to have so many very talented children and youth in our T1D community.

News & Events

School holiday camp

During the recent school holidays, the Diabetes WA and Perth Children’s Hospital again ran a school holiday camp for kids living with type 1 diabetes.

News & Events

Supporting Families Project Update

In early 2024, Dr Aveni Haynes and her team were awarded Telethon Trust funding for their project Supporting Families.

News & Events

Capacity Building Grants now open

The Rio Tinto Children's Diabetes Centre; a JDRF Global Centre of Excellence is excited to offer Type 1 Diabetes (T1D) researchers and Higher Degree by Research (HDR) students affiliated with the Global CoE, the opportunity to apply for sponsorship for training or capacity building related activities.

News & Events

Community Involvement in the Centre

Involving those who live with T1D or care for a child who lives with T1D is a primary focus for the Centre. This lived experience integral to making sure the research our Centre does is relevant and outcomes create meaningful impact for how they manage the condition on a day-to-day basis.