Hypogonadism in rare genetic diseases
Research type
Research Study
Full title
An observational study of hypogonadotrophic hypogonadism in genetic neurodevelopmental conditions
IRAS ID
340777
Contact name
Alisdair McNeill
Contact email
Sponsor organisation
The University of Sheffield
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Hypogonadism is the medical name for a condition in which levels of the hormones which control sexual development are lower than normal. There are dozens of different causes of hypogonadism. Many people with hypogonadism have a change in a gene. There are many genes that give instructions for the hormones important for sexual development. Changes in one of these genes that stops the gene from working, can cause hypogonadism. In some of these medical conditions, there are additional features such as learning problems. In this study we will search databases to find all the genetic conditions that can be associated with hypogonadism. We will ask a number of people with changes in certain genes, identified from our search, to come to our research clinic. We will ask them about their health and examine them for signs of hypogonadism. For some, we will take blood samples to test for hypogonadism. This project will help us understand how common hypogonadism is, in people with these genetic changes, which will help with their treatment.
REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
24/NE/0070
Date of REC Opinion
20 May 2024
REC opinion
Further Information Favourable Opinion