You searched for "thyroid"



THYROID HORMONE RESISTANCE


THRB 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 hormone receptor beta (THRB) gene. The

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.

CONGENITAL HYPOTHYROIDISM


function. In 80 to 85% of cases, congenital hypothyroidism is associated with, and 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)…

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


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

TSH (Thyroid Stimulating Hormone)


hypothyroidism due to pituitary or hypothalamic disorders.

 

If TSH >4.5 Patient Undertreated – if taking medication as prescribed, increase dose and retest in 4-6 weeks. This guidance is not applicable for pregnancy, thyroid cancer, or secondary hypothyroidism due to pituitary or hypothalamic disorders.

Availability…

ENDOCRINE NEOPLASIA SYNDROMES


characterised by the presence of mucosal neuromas of 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…

TRH test (Hypothalamic/pituitary/thyroid axis)


…value then this usually indicates primary hypothalamic disease.

In hyperthyroidism, the TSH remains suppressed and in hypothyroidism there is an exaggerated response. With the current sensitive TSH assays basal levels are now adequate and dynamic testing is not usually needed to diagnose hyperthyroidism.

SENSITIVITY AND…

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