Thyroid disorders are medical conditions that occur when the thyroid gland does not function correctly. Our BTF patient leaflets look at the most common disorders but some other conditions occur very rarely, sometimes as the result of genetic factors. Here as an overview of some of them.

TSH-secreting pituitary adenomas (TSHoma or Thyrotropinoma)

TSH-secreting pituitary adenomas are extremely rare, benign tumours of the pituitary gland. They produce excessive amounts of thyroid stimulating hormone (TSH) leading to high levels of thyroid hormone in the blood (thyrotoxicosis). Signs and symptoms are those of hyperthyroidism i.e. heat intolerance, tremor, anxiety, weight loss, rapid pulse and diarrhoea, but these may be more subtle than seen in other causes of thyrotoxicosis. Patients may also have headaches and visual disturbances, although sometimes there are no symptoms at all. 

Blood tests will show both high FT4 and FT3 levels, but, in contrast to other causes of thyrotoxicosis, the level of TSH is not low and is often within the normal range, or sometimes a little high. Treatment may include beta blockers (propranolol), anti-thyroid drug therapy (ATDs) and/or somatostatin analogue (SSA) injections, usually followed by surgery, with or without continued SSA injections.

More information can be found on the You and Your Hormones website. The following webinar was made for people living with RTH-beta and their families:

Video shared with kind permission from CoMICS 

Resistance to Thyroid Hormone

Resistance to thyroid hormone is a rare genetic condition where some body tissues do not respond normally to thyroid hormones produced by the thyroid gland. It may be associated with no symptoms or with features of both an overactive and underactive thyroid. To find out more please go to the You and Your Hormones website.

MCT8 Deficiency

Thyroid Hormone (TH) is crucial for normal development, especially brain development. TH needs to enter cells to be effective; to do this it is transported into the cell by proteins called TH transporters, located in the cells membranes (outer layer). There are a number of different TH transporters but one of these is particularly important for TH transport into brain cells and is called MCT8. The instructions for making the MCT8 transporter are found on the MCT8 gene, which is located on the X chromosome. MCT8 deficiency (also called the Allan-Herndon-Dudley Syndrome) is caused by an inability to produce a normal MCT8 transporter and is due to a defective MCT8 gene. With a few exceptions, it only affects males.

Patients with MCT8 deficiency have severe neurological abnormalities, felt to be due to a lack of thyroid hormone during brain development. Most patients cannot sit independently and cannot walk or talk. They also have high levels of a hormone called T3 in their bloodstream. T3 does not require the MCT8 transporter to get into cells of the muscle, so this tissue is exposed to too high a level of TH. This results in skeletal muscle which is metabolically ‘overactive’ and patients often require a high food intake in order to meet the demands of the metabolically overactive muscle, as well as having low body weight and muscle mass.

At present no effective treatment for MCT8 deficiency is available. Effective therapy should at least restore TH signalling in the brain and normalise serum TH levels. Preliminary results indicate that the medication called TRIAC (which is structurally similar to T3) may be effective in MCT8 deficiency. The TRIAC trial in MCT8 patients is designed to determine whether TRIAC is effective in MCT8 deficiency. The primary aim is to evaluate the effect of TRIAC treatment on serum (bloodstream) T3 and other TH levels, with secondary aims being

  • to determine the effect of TRIAC on the toxic effects of the hyperthyroid state in peripheral tissues (such as muscle), and
  • to observe the effects of TRIAC treatment on the neurological features

The trial is international, and patients have been recruited to a number of centres worldwide, including Cambridge in the UK. Recruitment for the trial has now been completed.

Read Joshua's story

More information on MCT8 deficiency

MCT8-AHDS Facebook group

Riedel's thyroiditis

Riedel's Thyroiditis is a rare form of hypothyroidism caused by a replacement of the normal thyroxine-producing cells in the thyroid by dense fibrosis or scar tissue that invades adjacent structures of the neck. This makes the thyroid gland stone-hard and fixed to adjacent structures. The inflammatory process infiltrates muscles and may affect nerves to the vocal cords causing swallowing difficulties, compression of the windpipe and a weak or husky voice. Surgical treatment is required to relieve tracheal or oesophageal obstruction.

Pendred syndrome

Pendred syndrome is a rare genetic disorder than can cause early hearing loss in children. It is a congenital condition (present from birth) and is usually picked up shortly after birth. It can also affect the thyroid gland and sometimes causes problems with balance. The two thyroid problems which can occur in Pendred syndrome are thyroid underactivity (hypothyroidism) and/or thyroid enlargement (goitre). Individuals may develop goitre with normal thyroid function. Although it can affect the thyroid, children with Pendred syndrome rarely have growth problems.

Hypothyroidism is rare before the age of 11 years in Pendred syndrome, and sometimes, the thyroid can become larger around puberty. If children develop hypothyroidism symptoms, this is corrected with levothyroxine and monitored regularly with thyroid function tests. The risk of hypothyroidism is linked to the genetic findings and therefore knowing the genetic diagnosis can be helpful. However, around half of all individuals with Pendred syndrome have normal thyroid function lifelong.

More information on Pendred Syndrome

Further resources:

To find out more about endocrine conditions go to the Society for Endocrinology’s online resource You and Your Hormones.

The Pituitary Foundation is a national charity offering support and information for people and their families affected by disorders of the pituitary gland 

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