Hypogonadotrophic Hypogonadism in Genetic Neurodevelopmental Conditions
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Genetic Neurodevelopmental Disorders. Basic parameters: 0 years — 99 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United Kingdom
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- Measurement of FSH [Time frame: within 1 month of recruitment]
- Measurement of LH [Time frame: within 1 month of recruitmen]
- Measurement of testosterone. [Time frame: within 1 month of recruitment.]
- Physical examination for pubertal staging. [Time frame: within 1- month of recruitment.]
- General medical examination. [Time frame: within 1 month of recruitment]
- Bone age from x-ray. [Time frame: within 1-month of recruitment.]
- Brain MRI [Time frame: within 1 month of recruitment]
- Gonadal ultrasound [Time frame: within 1-month of recruitment]
- Serum oestradiol [Time frame: within 1 month of recruitment]
- Serum AMH [Time frame: within 1 month of recruitment]
Eligibility criteria
Inclusion criteria
Pathogenic SNV or CNV in neurodevelopmental disorders gene of interest parent or carer consents to study
Exclusion criteria
parent or carer does not consent to study
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United Kingdom · 1 center
- Sheffield Childrens Hospital NHS Foundation Trust — Sheffield
Identifiers
NCT: NCT07049042 · 340777