Turner Syndrome And Thyroid Disorders

Introduction

In the world, there are various diseases, which can either develop through genetics or later in life. Genetic disease can even be responsible for developing diseases and these diseases can even lead to a fatal situation. Among these diseases, turner syndrome and thyroid disorders are the ones that are caused by genetic defects. Turner syndrome does mainly affect women and the thyroid disorder can affect women and also men. Turner syndrome is a chromosomal disorder affecting the females. This affects 1 in 2500 females around the world.¹ Thyroid disorder is a disease, which affects the thyroid gland and this can either be hypothyroidism or hyperthyroidism. The female who has Turner syndrome can develop hypothyroidism.¹ Thus, understanding Turner syndrome is important to prevent the development of other diseases, such as thyroid syndrome.

Turner syndrome

Definition and causes

Turner syndrome normally affects women and is developed during the early stage of life. This is not an inherited disorder, but a chromosomal defect disorder. When the fetus is in the womb, an X chromosome gets missed and left with only one X chromosome.² At the early stage, a nondisjunction takes place, where either an egg or sperm will become lost.² Hence, causing an X chromosome to go missing. 

Symptoms and diagnosis

There are wide types of symptoms or characteristics associated with Turner syndrome and these include:

• Short growth³
• Underdeveloped ovaries³
• Abnormal sex hormones or not enough production of these hormones³
• Incomplete sexual development³
• Broad chest & widely spaced nipples³
• Low hairline³
• Teeth issues³
• Short and wide neck³
• Small and spoon shaped nails³
• The arm that turns out at the elbow³
• Cataract³
• Lazy eyes³
• Droopy eyelids³
• Short eyesight³
• Squint³
• Hearing loss and repeated ear infections³

Furthermore, there are other types of diseases associated with Turner syndrome, which include:

• Diabetes³
• Kidney and urinary tract problems
• Obesity
• Osteoporosis (brittle bones)
• Hypothyroidism 
• High blood pressure
• Lymphoedema 
• Bleeding in the digestive system
• Digestive issues e.g ulcerative colitis & Crohn's disease

Turner's syndrome can be diagnosed initially through ultrasound during the pregnancy. The ultrasound would visualize fetal hydrops, cardiac defects and cystic hygroma if the fetus has Turner syndrome.² After the birth, a karyotype would take place in order to get a confirmation of the syndrome.² Karyotype involves testing the blood of the baby.² When the test is negative, there would be an additional test to investigate the tissues in the body (e.g. skin), buccal mucosa cells or bladder epithelial cells.2 The other way of diagnosing Turner syndrome is to view the characteristics of Turner syndrome.⁴ 

Prevalence and risk factors

Turner's syndrome does affect 1 in every 2000 girls.⁵ Women with Turner's syndrome have a high risk of mortality rate, because of cardiovascular malformations.² The Turner syndrome is not linked to the mother or genetic factors.² 

Thyroid disorders

The thyroid gland is a vital organ, which is located in the front of the neck.⁶ The thyroid gland is a hormone-production gland, which controls the metabolism, growth and development in the body.⁶ The gland secretes three hormones, which are triiodothyronine (T3), tetraiodothyronine (T4 or thyroxine) and calcitonin.⁶ T3 and T4 are the main hormones, which are involved in the role of metabolism, growth and development.⁶ On the other hand, calcitonin is a hormone, which is involved in calcium and bone metabolism.⁶ Too much or too little secretion of hormones can affect us. Too much thyroid hormones secreted is called hyperthyroidism and too little thyroid hormone secreted is called hypothyroidism.⁶ 

Causes and risk factors

Hypothyroidism and hyperthyroidism have different types of causes and risk factors. Hypothyroidism is where the thyroid gland secretes less thyroxine and the main cause is that the immune system will attach the thyroid gland.⁷ This attack will cause the thyroid gland to secrete less hormones. An example of an autoimmune reaction is Hashimoto’s disease.⁷ Furthermore, previous treatment, such as surgery or radioactive iodine therapy can cause hypothyroidism.⁷ Also, less iodine intake can contribute to less thyroxine production.⁷ The risk factors include:

• Less iodine intake⁷
• Previous surgery⁷

On the other hand, hyperthyroidism is where the thyroid gland secretes more hormones and the causes include:

• Graves’ disease - an autoimmune disease, which causes more thyroid hormone secretion⁸
• Thyroid nodules - consist of thyroid tissue, which causes increased hormone secretion⁸
• Medicine with increased levels of iodine⁸
• Increased level of human chorionic gonadotropin - happens during pregnancy⁸
• Thyroid cancer⁸
• Thyroiditis⁸
• Pituitary adenoma⁸

The risk factors for hyperthyroidism include:

• Graves’ disease⁸
• Smoking⁸
• Women⁸
• People over the age of 60⁸
• Increased level of iodine⁸

Symptoms and diagnosis

Symptoms of hypothyroidism include:

• Weight gain⁹
• Tiredness⁹
• Constipation⁹
• Depression⁹
• Sensitivity to cold⁹
• Slow movements⁹
• Muscle aches, weakness and cramps⁹
• Period issue (irregular or heavy)⁹
• Dry and scaly skin⁹
• Brittle hair and nails⁹
• Carpal tunnel syndrome⁹
• Loss of libido⁹

Symptoms of hyperthyroidism include:

• Sleeping difficulty¹⁰
• Anxiety¹⁰
• Mood swing¹⁰
• Sensitivity to heat¹⁰
• Muscle weakness¹⁰
• Diarrhea¹⁰
• Frequent urination¹⁰
• Itchiness¹⁰
• Thirst¹⁰

The diagnosis of both hyperthyroidism and hypothyroidism is to do a blood test, which tests the hormonal level in the blood.¹¹

The connection between turner syndrome and thyroid disorders

Anyone who is suffering from Turner syndrome has a higher chance of getting thyroid disorder. A patient who has an  X isochromosome has a higher risk of getting thyroid disorder.¹²

Clinical implications and management

The patients who have Turner syndrome will be tested for thyroid disorder regularly, because of the high risk of getting hypothyroidism.¹³ Hypothyroidism is a lifelong disorder, which has to be maintained regularly. The function test would be carried out to see the level of thyroxine in the blood. The main treatment for hypothyroxine is to take a medication called levothyroxine and it should be taken every day on an empty stomach.¹⁴ 

Discussion 

Turner syndrome is a chromosomal disorder, which only affects girls. The person will have only one X chromosome present and several characteristics present for anyone with Turner syndrome. The main ones are short growth, underdeveloped ovaries and incomplete sexual development. Turner syndrome will develop other diseases and one of them is hypothyroidism. Hypothyroidism is caused as a result of low levels of thyroxine hormone being secreted from the thyroid gland. The main way of diagnosis is doing a function test, which involves taking blood samples and viewing the level of thyroxine in the blood. If hypothyroidism is present, a medication called levothyroxine would be given. It is very important to maintain the hormone level because hypothyroidism can lead to other complications, which can be life-threatening. These complications are heart problems and myxedema coma.¹⁵ It is important to understand about turner syndrome and its consequences to maintain better health and lifestyle. 

Summary

Turner syndrome is a chromosomal disorder that primarily affects females, characterized by the absence of one X chromosome, resulting in various symptoms such as short stature, underdeveloped ovaries, and incomplete sexual development. It affects approximately 1 in 2,500 females globally and can lead to additional health issues, including hypothyroidism.

Thyroid disorders, which can affect both genders, involve abnormal hormone production by the thyroid gland, leading to conditions like hypothyroidism (low hormone levels) and hyperthyroidism (excess hormone levels). Turner syndrome patients, especially those with an X isochromosome, face a higher risk of developing thyroid disorders. Regular thyroid function tests are essential for early detection and management, typically involving daily levothyroxine treatment for hypothyroidism.

Understanding Turner syndrome and its implications, particularly the risk of thyroid disorders, is crucial for maintaining health and preventing complications.