Many conditions have similar symptoms to Cretinism, but a few distinguishing features help healthcare professionals make the diagnosis. X-rays can reveal delayed bone age, a symptom of Cretinism.
Endemic cretinism is characterized by severely stunted physical and mental growth, deaf mutism, and squint. It is caused by dietary iodine deficiency and can be genetic or sporadic.
Symptoms
Cretinism is a condition that results from congenital hypothyroidism, meaning that the thyroid gland doesn’t function normally at birth. The condition can be genetic or sporadic and it leads to severely stunted physical and mental growth with delayed bone and sexual maturation. It can also be the result of endemic goiter and severe iodine deficiency. This type of cretinism has been observed in the alpine regions of Europe, the Himalayas, parts of Asia, and Africa (Uele Region, Idjwi Island, Congo) where endemic goiter is present.
Physical symptoms include skeletal abnormalities like short stature, poor balance, and a characteristic waddling gait. Other symptoms include delayed sexual development, deafness, or complete blindness, and poor motor coordination. Severely affected patients can’t work or have children. Those with milder symptoms can communicate through gestures and a few words, but are usually mute.
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Symptoms of Cretinism can be mistaken for other conditions like Chronic Kidney Disease (CKD), which is characterized by a buildup of waste products in the kidney. CKD symptoms, such as frequent urination and swelling of feet and ankles, can be differentiated from Cretinism by blood and urine tests, which measure kidney function. CKD can also cause hair loss and weight loss.
Other genetic disorders like Down Syndrome and Prader-Willi Syndrome are associated with Cretinism, and can lead to similar symptoms including poor muscle tone, slow growth rate, and short height. Turner Syndrome, a condition that affects 1 in 2,000 girls and causes early puberty, can also coexist with Cretinism.
Consistent monitoring of growth and development can help to ensure that hormone replacement treatment is working properly. A regular checkup with a healthcare provider is recommended to assess progress and to monitor thyroid function. People with Cretinism should aim for a healthy diet and lifestyle, as well as adequate sleep to support optimal health and cognitive functioning. They should also consider telemedicine for convenient and affordable access to medical care. This can help keep them in touch with their healthcare providers, making it easier to adhere to their treatment plans. A consistent, positive attitude can improve quality of life for those living with Cretinism.
Diagnosis
Cretinism can be diagnosed based on symptoms and family history. A blood test can also confirm the diagnosis by examining the thyroid stimulating hormone (TSH). TSH is produced in the pituitary gland and signals the thyroid to produce its own hormones. A high TSH level in the blood is a telltale sign of Cretinism. Other blood tests, such as the T3, T4, and thyroxine binding globulin may be performed to further analyze blood levels and confirm the diagnosis.
The classic clinical features of cretinism are retarded growth, deaf-mutism, and motor spasticity. The severity of these features varies with the degree of iodine deficiency in the area of endemicity and with the age at which the cretinous infant is identified.
In mild cases, cretinous patients are capable of communicating with others through gestures and limited speech and can perform some simple tasks. Severely affected patients are unable to live independently and require permanent care in nursing homes.
Newborn screening programs for iodine deficiency are important in identifying cretinous infants and making early treatment possible. However, the diagnostic criteria on which cretinism is typically diagnosed in the newborn period are not well defined.
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Cretinism caused by iodine deficiency during early pregnancy is called neurologic or endemic cretinism and is generally characterized by severe mental retardation with a squint, motor spasticity, and a goitre. It is the form of cretinism that most commonly occurs in areas of severe iodine deficiency. Endemic cretinism can be genetic or caused by abnormal development or function of the thyroid in pregnancy. It is usually irreversible but can be prevented by administering iodine during the first trimester of pregnancy.
Cretinism caused by an autoimmune disorder or another condition, such as multinodular goitre or Graves disease, is typically not accompanied by the neurological or endemic features of cretinism but can still cause retarded physical and mental growth. A normal MRI would not necessarily exclude this type of cretinism, but if symptoms persist, doctors would consider re-testing or other potential diagnoses. Symptoms are valid indicators of health issues and should not be ignored or dismissed.
Treatment
Cretinism is a severe form of growth retardation caused by extreme iodine deficiency during the fetal, infant, and childhood phases. It is irreversible if not treated with thyroid hormones and iodine before birth, but it can be corrected with prompt treatment after birth. It is characterized by short stature, intellectual disability, and myxedematous skin. It can also lead to a lack of hair growth, eye problems, and delayed puberty.
Endemic cretinism is sometimes confused with congenital hypothyroidism, which results from an underactive thyroid gland, but it’s not the same condition. While both conditions cause stunted growth, endemic cretinism is irreversible and usually results from iodine deficiency in the first trimester of pregnancy. Congenital hypothyroidism is usually a result of the mother taking anti-thyroid drugs, including methimazole and levothyroxine, during pregnancy, although it may also be caused by an undiagnosed goiter or exposure to radioactive iodine.
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Other health conditions can mimic the symptoms of cretinism, so it’s important to be evaluated by a healthcare provider before making a diagnosis. Down Syndrome, for example, is a genetic disorder that causes stunted growth and developmental delays, but it can be distinguished by unique physical traits like upward-slanting eyes and a single crease across the palm. Other conditions causing mental and physical disabilities include Prader-Willi Syndrome, Angelman Syndrome, and Fragile X Syndrome.
Diagnosing cretinism often involves blood tests to measure the levels of thyroid hormones in the body. Doctors can use a test called the free T4 (thyroxine) to evaluate thyroid function, as well as a serum iodide level for iodine levels. In some cases, doctors may order an MRI scan to examine the structure and function of the thyroid gland and other organs.
If a patient is diagnosed with cretinism, treatment typically involves regular injections of synthetic thyroid hormones such as Levothyroxine or Liothyronine to stimulate normal growth and development. Symptoms of the condition will improve with consistent medication, and doctors can monitor progress by testing for improvement in cognitive or physical development. It’s important to keep up with regular follow-up appointments to ensure that the therapy is working properly.
Prevention
Cretinism is a congenital condition that prevents the thyroid gland from functioning properly. The symptoms include stunted physical and mental growth, and if untreated can lead to retardation and a variety of other medical conditions including heart problems. This condition can be prevented with adequate dietary iodine intake, and screening newborns for the disorder. The most common form of the disease is endemic cretinism, which occurs in areas with severe iodine deficiency. It was discovered that iodine deficiency caused goiter and cretinism, but it wasn’t until the 1920s that adequate dietary iodine could be provided to all newborns and pregnant women in order to reduce the incidence of these diseases.
Cretinism may also occur as a side effect of some medications or as a result of genetic mutations, but iodine deficiency is by far the most common cause of this condition. Endemic cretinism is seen in regions of the world where the iodine intake is extremely low, and the concentrations of iodine in the urine are under 15 mcg per day. The children who live in these endemic zones are often clustered within families, and the condition appears to run in some family lines.
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Sporadic cretinism is rarely seen, and the symptoms are similar to those of endemic cretinism. This type of cretinism is often found in individuals who have an abnormality in the thyrotropin-releasing hormone receptor, or TRH, and is thought to be due to gene mutations rather than environmental factors. It’s important for patients to monitor their growth and development, and to have regular thyroid function tests in order to ensure the proper replacement of thyroid hormones.
If a person develops the signs and symptoms of Cretinism, they should visit their doctor immediately. They’ll be given a thorough physical examination, and blood tests to measure the levels of thyroid hormones in their body. An MRI may be needed to confirm the diagnosis, but if these results come back normal, doctors would re-evaluate the patient and explore alternative diagnoses. It’s also important to eat a well-balanced diet that includes plenty of fresh fruits and vegetables, and to get adequate sleep and exercise in order to promote overall health.
