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THYROID HORMONE RESISTANCE


ALB, SECISBP2, SLC16A2, THRA, THRB AND TSHR GENE ANALYSIS

Thyroid hormone resistance, also known as Impaired sensitivity to thyroid hormone, is characterized by a reduced responsiveness of target tissues to thyroid hormone and is primarily caused by germline pathogenic variants in the thyroid

Thyroid Peroxidase Antibodies


…peroxidase antibody positive should have an annual thyroid function test.

Subjects with subclinical hypothyroidism who are thyroid peroxidase antibody negative should have repeat thyroid function testing approximately every 3 years.

Hyperthyroidism

Once a biochemical diagnosis of hyperthyroidism has been made, other tests may be needed…

MEDULLARY THYROID CARCINOMA


RET GENE ANALYSIS IN FAMILIAL MEDULLARY THYROID CARCINOMA & ANALYSIS OF RET AND RAS GENES IN SPORADIC MEDULLARY THYROID CARCINOMA

Familial Medullary Thyroid Cancer (FMTC) is characterised by the presence of medullary thyroid cancer (MTC) in the absence of phaeochromocytoma or parathyroid adenoma/hyperplasia.

Mutation Detection Rates for Multiple Endocrine Neoplasia Types 2A and 2B, Familial Medullary Thyroid Carcinoma and Sporadic Medullary Thyroid Carcinoma


TSH (Thyroid Stimulating Hormone)


Specimen

Serum

Units

miu/L

Reference Range

0.27 – 4.2 miu/L

Test Usage for monitoring patients on replacement Thyroxine

If TSH <0.35, Patient overtreated – reduce dose and retest after 4-6 weeks. This guidance is not applicable for pregnancy, thyroid cancer, or secondary hypothyroidism due to

Thyroid function requesting


Please note: TSH is done as a first line test for all thyroid function requests. If the TSH is abnormal, then a fT4 is cascaded. Marking “On T4” does not automatically result in a fT4 request being made. Please take care to appropriately mark “On

CONGENITAL HYPOTHYROIDISM


…presumably is a consequence of, thyroid dysgenesis. In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). Inborn errors of thyroid hormone biosynthesis (dyshormonogenesis) account for 10-15% of cases.

NHSE test directory code: R145 Congenital hypothyroidism. Testing…

Thyroid Function Tests


Protocol

The Exeter laboratory thyroid function test testing strategy uses TSH as a front-line test.

Secondary hypothyroidism due to pituitary disease will be difficult to detect using TSH as a front-line test, and cannot be expected to be picked up as a matter of routine

TRH test (Hypothalamic/pituitary/thyroid axis)


…disease and thyrotoxicosis but also in some cases of euthyroid ophthalmic Grave’s disease and multinodular goitre.

A late rise in TSH may be seen rarely in thyroid and pituitary disease as well as hypothalamic disease.

REFERENCE

Hall et al., Lancet i: 759-63 (1972).

ATH 11/89

ENDOCRINE NEOPLASIA SYNDROMES


…lips and tongue as well as distinctive facies with enlarged lips, a ‘marfanoid’ body habitus and medullary thyroid cancer.

Patients with Familial Medullary Thyroid Cancer (FMTC) have medullary thyroid cancer (MTC) without additional MEN2A or MEN2B-related features.

NHSE test directory codes: R217 Multiple endocrine…