A novel causative gene of congenital central hypothyroidism.

A novel causative gene of congenital central hypothyroidism. - Gene mutations in central hypothyroidism.

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON41692

Enrollment

Registered

2014-03-12

Start date

2014-04-08

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: - Congenital central hypothyroidism. - First- or second-degree relative of a patient with congenital central hypothyroidism.

Exclusion criteria

Exclusion criteria: Carriers of other genetic defects known to cause congenital central hypothyroidism.

Design outcomes

Primary

Measure	Time frame
1) The genetic sequence of the TBL1X gene in patients with central hypothyroidism. 2) The presence of the same TBL1X-mutation in first- and second degree relatives of patients with a newly discovered TBL1X-mutation. 3) Clinical, biochemical and radiological characteristics of hemizygous (males) and heterozygous (female) carriers of a mutation in the TBL1X gene: a. Medical history, including a developmental/psychosocial history and attention to hearing impairment. b. Physical examination, including height and weight, pubertal development and thyroid gland size. c. Biochemical assessment of the HP/adrenal axis (plasma cortisol and ACTH), the HP-growth hormone/IGF-1 axis (serum IGF-1 and IGFBP-3), the HP/gonadal axis (plasma LH, FSH + testosterone in males and serum estradiol in females), and the HP-lactotroph axis (plasma prolactin). d. Biochemical assessment of liver function (ALAT, ASAT, gamma-GT, glucose, platelet count and albumin). 4) a. Biochemical assessment of the hypothalamo/pituitary (HP)/thyroid axis, including plasma FT4, TSH, T4, T3, rT3, TBG, Tg and TSH bioactivity. b. Hearing assessment by tone audiometry. c. Thyroid gland and testicular size measured by ultrasound.	—

Measure

Time frame

1) The genetic sequence of the TBL1X gene in patients with central hypothyroidism. 2) The presence of the same TBL1X-mutation in first- and second degree relatives of patients with a newly discovered TBL1X-mutation. 3) Clinical, biochemical and radiological characteristics of hemizygous (males) and heterozygous (female) carriers of a mutation in the TBL1X gene: a. Medical history, including a developmental/psychosocial history and attention to hearing impairment. b. Physical examination, including height and weight, pubertal development and thyroid gland size. c. Biochemical assessment of the HP/adrenal axis (plasma cortisol and ACTH), the HP-growth hormone/IGF-1 axis (serum IGF-1 and IGFBP-3), the HP/gonadal axis (plasma LH, FSH + testosterone in males and serum estradiol in females), and the HP-lactotroph axis (plasma prolactin). d. Biochemical assessment of liver function (ALAT, ASAT, gamma-GT, glucose, platelet count and albumin). 4) a. Biochemical assessment of the hypothalamo/pituitary (HP)/thyroid axis, including plasma FT4, TSH, T4, T3, rT3, TBG, Tg and TSH bioactivity. b. Hearing assessment by tone audiometry. c. Thyroid gland and testicular size measured by ultrasound.

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Secondary

Measure	Time frame
None	—

Countries

Netherlands

Outcome results