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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


thyroid 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…

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.

Hypothyroidism Treatment


associated with painful thyroid enlargement and systemic upset.

Pain in anterior neck; systemic upset; raised ESR/CRP

Diagnostic tests Transient hyperthyroidism of 2 – 4 months duration followed by transient hypothyroidism of 2 – 9 months duration. A diagnosis of thyroiditis can be confirmed by a…

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)…

Guidelines on Thyroid Disease


hypothyroidism

– goitres and nodules

(Surgery 2nd & 4th Thursday) Rapid Referral – Thyroid Clinic (Tel 402258)Thyroid medical clinic:– Direct access (thyrotoxicosis only)Make appointment by phoning 402258- send letter with patient

Surgical clinics

Mr Knox and Miss Dunn

Telephone Advice

Dr Hattersley or Dr MacLeod

Calcitonin and Calcitonin Stimulation


Taken from

Endocrinology Handbook

Endocrine Unit

Imperial College Healthcare NHS Trust

Charing Cross, Hammersmith and St. Mary’s Hospitals

Updated: March 2010

CALCITONIN.

Calcitonin may be secreted by C-cells on the thyroid gland. High levels may suggest medullary thyroid carcinoma. In very early disease (eg

TSH (Thyroid Stimulating Hormone)


secondary 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.

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