Hypogonadotrophic Hypogonadism in Genetic Neurodevelopmental Conditions
ConditionGenetic Neurodevelopmental Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age0-99
SponsorUniversity of Sheffield
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
None
Disqualifiers
None
Trial population
Individuals with pathogenic CNVs or SNVs in a gene causing a neurodevelopmental disorder. Especially SOX genes to investigate association with hypogonadism.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Measurement of FSH
Blood sample to measure FSH levels. FSH (IU/l) reference range Male, female 0 - 1 month \<22.0 Roche 24.01.2011 Male 1 month - 6 years \<2.8 Roche 24.01.2011 Male 6 - 11 years \<3.8 Roche 24.01.2011 Male 11 - 14 years \<4.6 Roche 24.01.2011 Male 14 years + 1.5 - 12 Roche 24.01.2011 Females 1 month - 14 years 0 - 11 Roche 24.01.2011 Follicular phase 3.5 - 13 Roche 24.01.2011 Mid-cycle 4.7 - 22 Roche 24.01.2011 Luteal phase 1.7 - 7.7 Roc
Time frame
within 1 month of recruitment2
Measurement of LH
Blood sample to assay LH levels. LH (IU/l) reference range Males 0 - 1 year \<3.2 Wiedemann Males 1 - 11 years \<1.4 Roche 24.01.2011 Males 11 - 14 years \<7.8 Roche 24.01.2011 Males 14 - 17 years 1.3 - 9.8 Roche 24.01.2011 Males 17 years + 1.7 - 8.6 Roche 24.01.2011 Females 0 - 6 years \<0.5 Roche 24.01.2011 Females 6 - 11 years \<3.1 Roche 24.01.2011 Females 11 - 14 years \<11.9 Roche 24.01.2011 Follicular Phase 2.4 - 13 Roche 24.01.2011 Mid - cycle 14 - 96 Roche 24.01.2011 Luteal phase 1.0 - 11 Roche 24.01.2011 Females 60y + (post-menopausal) 7.7 - 59 Roche 24.01.2011
Time frame
within 1 month of recruitmen3
Measurement of testosterone.
Blood assay of testosterone levels in males. Testosterone (nmol/l) Reference range Males, 6 months - 6 years \<1.12 Roche 24.01.2011 Males 6 - 13 years \<2.37 Roche 24.01.2011 Males 13 - 18 years 0.98 - 38.5 Roche 24.01.2011 Males 18 - 50 years 8.6 - 29 Roche 24.01.2011 Males 50 years + 6.7 - 25.7 Roche 24.01.2011 Females 0 - 1 month 0.7 - 2.2 Soldin 24.01.2011 Females 1 month - 10 years \<0.4 Soldin 24.01.2011 Females 10 - 12 years \<0.9 Soldin 24.01.2011 Females 12 years + 0.3 - 1.7 Roche 24.01.2011 Females 50 years + 0.1 - 1.4 Roche 24.01.2011
Time frame
within 1 month of recruitment.4
Physical examination for pubertal staging.
Tanner staging standard exam (testicular volume, body hair development, breast development).
Time frame
within 1- month of recruitment.Sponsors and contacts
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Source ClinicalTrials.gov