A novel genetic cause of congenital central hypothyroidism.

A novel genetic cause of congenital central hypothyroidism. - Genetic cause of central hypothyroidism

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON43775

Enrollment

Registered

2016-11-07

Start date

2015-07-07

Completion date

Unknown

Last updated

2024-02-28

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

Central hypothyroidism

Congenital hypothyroidism

Gene

Mutation

Eligibility

Age

2 Years to 64 Years

Inclusion criteria

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

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame
1) The frequency of mutations of this gene in patients with central hypothyroidism and their first- and second-degree relatives	—

Secondary

Measure	Time frame
2) Clinical, biochemical and radiological consequences of mutations in this gene for hemizygous (males) and heterozygous (female) carriers: a. Medical history, including a developmental/psychosocial history b. Physical examination, including height and weight, pubertal development and thyroid gland size. c. Biochemical assessment of the HPT axis, including plasma FT4, TSH, T4, T3, rT3, TBG, Tg, TSH bioactivity and a TRH stimulation test. d. 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). Pituitary stimulation tests will be performed when indicated. e. Analysis of pulsatile TSH release f. Oral glucose tolerance test (OGTT) and homeostatic model assessment (HOMA) g. Thyroid gland and testicular size measured by ultrasound. h. Hypothalamus and pituitary morphology assessed by MRI (if possible without any form of anesthesia). i. Hearing assessment by tone audiometry.	—

Measure

Time frame

2) Clinical, biochemical and radiological consequences of mutations in this gene for hemizygous (males) and heterozygous (female) carriers: a. Medical history, including a developmental/psychosocial history b. Physical examination, including height and weight, pubertal development and thyroid gland size. c. Biochemical assessment of the HPT axis, including plasma FT4, TSH, T4, T3, rT3, TBG, Tg, TSH bioactivity and a TRH stimulation test. d. 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). Pituitary stimulation tests will be performed when indicated. e. Analysis of pulsatile TSH release f. Oral glucose tolerance test (OGTT) and homeostatic model assessment (HOMA) g. Thyroid gland and testicular size measured by ultrasound. h. Hypothalamus and pituitary morphology assessed by MRI (if possible without any form of anesthesia). i. Hearing assessment by tone audiometry.

—

Countries

The Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)