Clinical assessment of patients with a mutation in the IGSF1 gene

Clinical assessment of patients with a mutation in the IGSF1 gene - Clinical assessment IGSF1

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON41375

Enrollment

Registered

2013-06-12

Start date

2013-10-07

Completion date

Unknown

Last updated

2024-04-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Central hypothyroidism low blood levels of thyroid hormone because thyroid gland is insufficiently activated

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Documented pathogenic mutation in the IGSF1 gene Informed consent

Exclusion criteria

Exclusion criteria: None

Design outcomes

Primary

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

Measure

Time frame

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

—

Secondary

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

Countries

Netherlands

Outcome results