The objective of the current proposal is to further explore the pathophysiological changes that occur in patient with an IGSF1 mutation, using an established method for assessing hormone secretory characteristics.
ID
Source
Brief title
Condition
- Hypothalamus and pituitary gland disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
24-hour hormone profiles of:
- Growth hormone
- Follicle stimulating hormone
- Luteinizing hormone
- Thyroid stimulating hormone
Potentially in a later analysis:
- ACTH
- Cortisol
- Prolactin
Secondary outcome
Crosscorrelations between hormonal axes
Background summary
A defect in the IGSF1 gene causes a heterogenous phenotype of TSH deficiency,
prolacin deficiency, growth hormone deficiency, macroorchidism and delayed
testosteron rise during puberty. This syndrome has only recently been
discovered, and so far 43 patients are known to have this gene defect worldwide
(of which 30 live in the Netherlands). Little is known about the
pathophysiology of this syndrome, and further studies are warrented to
elucidate the role of IGSF1 in the regulation of pituitary hormones.
Study objective
The objective of the current proposal is to further explore the
pathophysiological changes that occur in patient with an IGSF1 mutation, using
an established method for assessing hormone secretory characteristics.
Study design
We propose to perform 24-hr rhythm profiles (drawn blood every 10 minutes for
24 hr) to quantitate hormone secretion and to study correlations between
several pituitary hormones. The 24-hr profiles will be analyzed with
established techniques (deconvolution analysis, Approximate Entropy, and
Cosinor analysis).
Study burden and risks
Burden:
Patients are only allowed to leave their hospital beds for toilet visits, which
is a considerable restriction in their freedom of movement. Also, an
intravenous canule will stay in situ for 24 hours, further limiting their
freedom of movement. Finally, having an investigator draw blood every 10
minutes during the night might interfere with a subject's sleep comfort.
The investigators consider this burden as not to be neglected, but within
reasonable and acceptable boundries.
Risk:
Patient are at risk of undergoing more than one attempts to (re)place the
intravenous canule.
Albinusdreef 2
Leiden 2333ZA
NL
Albinusdreef 2
Leiden 2333ZA
NL
Listed location countries
Age
Inclusion criteria
1. Male patients who are known to have with a pathogenic IGSF1 mutation
2. Female carriers who are known to have with a pathogenic IGSF1 mutation
All eligible patients were previously tested for an IGSF1 mutation based on specific symptoms (familial central hypothyroidism) or based on susceptibility from pedigree analyses. The patients are familiar with their gene defect and have already received information from their physician about the possible implications of having this defect.
Patients will be informed about the nature of this study by their treating physician. If they are interested in participating, the primary investigators will contact them by phone and send written information about the study details.
Exclusion criteria
None.
Design
Recruitment
metc-ldd@lumc.nl
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL42392.058.12 |