Clinical assessment of patients with a mutation in the IGSF1 gene

Completed

• Conditions: Central hypothyroidism; low blood levels of thyroid hormone because thyroid gland is insufficiently activated; 10021112; 10013362

• Registration Number: NL-OMON41375
• Lead Sponsor: eids Universitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 29 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 30

Inclusion Criteria

Documented pathogenic mutation in the IGSF1 gene
Informed consent

Exclusion Criteria

None

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>1. Medical history.<br /><br>2. Physical examination.<br /><br>3. DEXA or bioelectrical impedance analysis for body composition.<br /><br>4a. Fasting blood sample for FT4, FT3, T3, TSH, prolactin, LH, FSH,<br /><br>testosterone, SHBG, inhibin B, antimüllerian hormone, oestradiol, DHEAS, DHEA,<br /><br>androstenedione, IGF-I, IGFBP-3, cholesterol, LDL-cholesterol, HDL-cholesterol,<br /><br>triglycerides, glucose, insulin, C-peptide, cortisol, ACTH, GH, leptin.<br /><br>4b. TRH-induced response of TSH, prolactin and growth hormone at 0*, 20*, 60*,<br /><br>90*, 120*, 180*. Free T4, Free T3 and thyroglobulin will be determined at 0,<br /><br>120 and 180 minutes. TSH bioactivity will be assessed at 0, 20 and 60 minutes.<br /><br>4c. If clinically indicated: GnRH-induced response of LH and FSH; GH response<br /><br>to GH stimulation test; and assessment of corticotrope axis.<br /><br>5. Ultrasound examination of the thyroid gland, and testis or ovaries.<br /><br>6. Echocardiography</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1. Ring size<br /><br>2. X-ray of hand<br /><br>3. Photograph with conventional camera<br /><br>4. Questionnaire assessing complaints related to growth hormone overproduction<br /><br>5. Neuropsychological tests<br /><br><br /><br>For participation in these measurements, the patient will receive a financial<br /><br>compensation.</p><br>