The main treatment is to give the baby thyroid hormone (levothyroxine). This condition must be treated within the first four weeks after birth or the intellectual disability may be permanent. Thyroid hormone comes in a pill that parents can crush up into their baby’s breast milk, formula, or water.
Full Answer
What causes cretinism and how is it treated?
Prompt diagnosis and treatment are important in cretinism since any delay in initial replacement may lead to irreversible damage. Maternal hypothyroidism may also cause neonatal cretinism. Hypothyroidism may result from treatment of hyperthyroidism using antithyroid drugs or radioactive iodine.
How to diagnose cretinism in babies?
Cretinism Diagnosis 1 Newborn Screening Test This is a screening test is used to detect the newborn for metabolic and genetic disorders. ... 2 Measurement of TSH or thyroxine (T4) The sample is obtained on the second or third day of life. ... 3 Imaging studies
How is sporadic cretinism replaced by congenital hypothyroidism?
Practice Essentials. This led to replacement of the descriptive term sporadic cretinism with the etiologic term congenital hypothyroidism. Treatment with thyroid replacement therapy was found to elicit some improvement in these infants (see the images below), although many remained impaired.
What are the two types of cretinism?
Two types of cretinism are congenital cretinism and endemic cretinism. The cause of congenital cretinism is genetic defect in enzymes that aid thyroid hormone synthesis. Endemic cretinism is mostly caused by maternal hypothyroidism.
What is the treatment for cretinism?
The main treatment is to give the baby thyroid hormone (levothyroxine). This condition must be treated within the first four weeks after birth or the intellectual disability may be permanent. Thyroid hormone comes in a pill that parents can crush up into their baby's breast milk, formula, or water.
How is infant hypothyroidism treated?
Congenital hypothyroidism is treated by giving thyroid hormone medication in a pill form called levothyroxine. Many children will require treatment for life. Levothyroxine should be crushed and given once daily, mixed with a small amount of water, formula, or breast milk using a dropper or syringe.
Is thyroxine used in cretinism?
Cretinism Treatment The recommended dose is 10 to 15 μg per kg of body weight. The dose should be increased as the age progresses. Everyday treatment with thyroxine should be initiated as early as possible as mental retardation that has ensued already is only partially reversible.
What is the drug of choice for newborns with congenital hypothyroidism?
Recommended starting dose of levothyroxine for congenital hypothyroidism is 10 to 15 μg/kg/day. Newborns with elevated TSH should be treated empirically with thyroid hormone replacement until they are aged 2 years to eliminate any possibility of permanent cognitive deficits caused by hypothyroidism.
How do you give levothyroxine to an infant?
You can give levothyroxine to your baby by following these steps:Crush the entire pill with the back of a spoon or with a pill crusher.Put the entire crushed pill into the nipple of a bottle. Add a small amount of breast milk, formula or water to the nipple.Feed your baby with the nipple as you normally do.
How can cretinism usually be prevented?
About one billion people worldwide risk the consequences of iodine deficiency, all of which can be prevented by adequate maternal and infant iodine nutrition. Iodized salt is usually the preferred prophylactic vehicle, but iodized vegetable oil, iodized water, and iodine tablets are also occasionally used.
What hormone is involved in cretinism?
Cretinism is a condition of severe physical and mental retardation due to iodine deficiency, and specifically due to deficiency of thyroid hormones during early pregnancy.
Is calcitonin a hormone?
Calcitonin is a 32 amino acid hormone secreted by the C-cells of the thyroid gland. Calcitonin has been preserved during the transition from ocean-based life to land dwellers and is phylogenetically older than parathyroid hormone.
Why does iodine deficiency cause cretinism?
In contrast, in severe iodine deficiency, maternal hypothyroidism does occur during pregnancy and the contribution of maternal thyroxine to the saturation of the triiodothyronine receptors of the brain of the growing fetus is decreased, resulting in the development of the neurological features of endemic cretinism.
What is in thyroxine tablets?
About levothyroxine Levothyroxine is a medicine used to treat an underactive thyroid gland (hypothyroidism). The thyroid gland makes thyroid hormones which help to control energy levels and growth. Levothyroxine is taken to replace the missing thyroid hormone thyroxine. Levothyroxine is only available on prescription.
What is congenital hypothyroidism in infants?
Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck.
What is another name for levothyroxine?
What is Synthroid (levothyroxine)? Synthetic thyroxine (T4) comes as brand-name Synthroid or generic levothyroxine. T4 is what is known as a “prohormone”; it's made by the thyroid gland and gets converted to the active hormone, T3, in other body tissues.
What is the thyroid test for newborns?
The test involves taking a small blood sample from the baby’s heel. A laboratory checks the baby’s blood levels of thyroid hormone (T4) and thyroid-stimulating hormone (TSH).
Why do babies need iodine?
A baby’s body needs iodine to make thyroid hormones. These hormones are essential for healthy growth, brain, and nervous system development. Between 1 in 2,000 and 1 in 4,000. Trusted Source. babies are born with congenital hypothyroidism.
What is the difference between myxedema and congenital hypothyroidism?
Congenital hypothyroidism vs. myxedema. Myxedema is a term used to describe a severely underactive thyroid gland in an adult. Congenital hypothyroidism refers to a thyroid deficiency in an infant. Myxedema can also be used to describe skin changes caused by low thyroid hormone levels.
How much iodine is needed for congenital hypothyroidism?
Adults can prevent iodine deficiency by getting the Institute of Medicine’s recommended dietary allowance (RDA) of 150 micrograms of iodine per day. One teaspoon of iodized salt contains about 400 micrograms of iodine.
What is congenital hypothyroidism?
Overview. Congenital hypothyroidism, previously known as cretinism, is a severe deficiency of thyroid hormone in newborns. It causes impaired neurological function, stunted growth, and physical deformities. The condition may occur because of a problem with the baby’s thyroid gland, or a lack of iodine in the mother’s body during pregnancy.
Is it harder to learn with congenital hypothyroidism?
Even with treatment, some children with congenital hypothyroidism may be slower to learn than other kids their age.
What is the medical definition of cretin?
Acretin, from the French chrétien (Christian), is defined in Webster’s Encyclopedic Unabridged Dictionary (1) as “one who is human despite deformities”. The medical definition of cretinism is untreated congenital hypothyroidism, with or without a goiter. Iodine deficiency is still a major cause of endemic cretinism, ...
What is the importance of neonatal diagnosis and treatment of congenital hypothyroidism?
The neonatal diagnosis and treatment of congenital hypothyroidism prevents severe intellectual delay, a significant contribution by many in the past century. The present century must address the needs of the millions of infants in nonaffluent parts of the world where congenital hypothyroidism of all etiologies, including iodine deficiency, is still a major health problem.
Why are infants vulnerable to thyroxine?
The fetus and the infant are neurologically vulnerable due to the incomplete brain development in humans at birth. A progressive intellectual deterioration occurs with each passing week in the absence of appropriate thyroxine replacement. Severe developmental and physical delays occur by six months of age.
Introduction to Cretinism
Cretinism is the result of underactivity of thyroid gland during childhood that leads to iodine deficiency disorder. The people suffering from this disease were mentally challenged. Cretinism can be a result of endemic cretinism (extreme iodine deficiency) or sporadic cretinism.
Types of Cretinism
Cretinism is of two types: Congenital cretinism and endemic cretinism.
Treatment of Cretinism
Early treatment is important in cretinism, preferably started within the first two weeks after diagnosis. Some symptoms of cretinism (such as developmental abnormalities or retarded mental abilities) are irreversible so treatment should be started before they appear.
Things to Remember
Cretinism is an iodine deficiency disorder that is the result of underactivity of thyroid glands during infancy or early childhood.
Sample Questions
Ans. Thyroid gland is located in the front part of the neck. It is a ductless endocrine gland. Thyroid gland is mainly responsible for releasing two hormones Thyroxine and Triiodothyronine. Thyroid gland is prone to many diseases and disorders.
When can you test for congenital cretinism?
Congenital cretinism with severe hypothyroidism can be identified by antenatal screening test in the first month of life.
What are the two types of cretinism?
Types of Cretinism. The medical condition cretinism is distinguished into two types: Congenital Cretinism: The rate of incidence is 1:3000 to 1:4000 in an iodine-deficient endemic area. This mainly due to the defect in the genes which is responsible for encoding the various enzymes involved in the thyroid hormone synthesis such as thyroglobulin, ...
What is the meaning of the word "cretin"?
Introduction. The word cretin is termed as the iodine deficiency disorder which is associated with insufficient intake of the thyroid hormone activity that occurs during the fetal, infant or childhood phases. The word cretin is derived from the French word chrétien, literally meaning “Christian” or “Christ like” as the diseased were mentally ...
What are the characteristics of neurological cretinism?
Neurological Cretinism: This type of cretinism shows features like retarded growth, deaf-mutism, motor spasticity, severe mental retardation with squint.
Does cretinism affect children?
This type of cretinism majorly affects the children who live in the geographical settings where iodine is deficient, and it is not corrected by either supplementing iodine or thyroid hormone to regain normal thyroid hormone levels during early life.
Can cretinism be caused by hypothyroidism?
Maternal hypothyroidism may also cause neonatal cretinism. Hypothyroidism may result from treatment of hyperthyroidism using antithyroid drugs or radioactive iodine.
Where does the word "cretin" come from?
The word cretin is derived from the French word chrétien, literally meaning “Christian” or “Christ like” as the diseased were mentally retarded and incapable of doing sin. This medical condition affects the humans differently according to the age it is being affected.
What is sporadic cretinism?
The term sporadic cretinism was initially used to describe the random occurrence of cretinism in nonendemic areas. The cause of these abnormalities was identified as nonfunctioning or absent thyroid glands. This led to replacement of the descriptive term sporadic cretinism with the etiologic term congenital hypothyroidism. Treatment with thyroid replacement therapy was found to elicit some improvement in these infants (see the images below), although many remained impaired.
How to diagnose primary hypothyroidism?
Diagnosis of primary hypothyroidism is confirmed by demonstrating decreased levels of serum thyroid hormone (total or free T4) and elevated levels of thyroid-stimulating hormone (TSH). If maternal antibody–mediated hypothyroidism is suspected, maternal and neonatal antithyroid antibodies may confirm the diagnosis. [ 12] Such antibodies are an uncommon cause of congenital hypothyroidism. [ 13, 14]
What is CH in medical terms?
Practice Essentials. Congenital hypothyroidism (CH) is inadequate thyroid hormone production in newborn infants. It can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency. (See the image below.)
How to tell if a baby has hypothyroidism?
Infants with congenital hypothyroidism are usually born at term or after term. Symptoms and signs include the following: 1 Decreased activity 2 Large anterior fontanelle 3 Poor feeding and weight gain 4 Small stature or poor growth 5 Jaundice 6 Decreased stooling or constipation 7 Hypotonia 8 Hoarse cry
How early can you diagnose congenital hypothyroidism?
Optimal care may include diagnosis before age 10-13 days and normalization of thyroid hormone blood levels by age 3 weeks. [ 17, 18]
Why do babies have anemia?
Anemia may occur, due to decreased oxygen carrying requirement. A small but significant number (3-7%) of infants with congenital hypothyroidism have other birth defects, mainly atrial and ventricular septal defects. [ 11]
When are babies born with congenital hypothyroidism?
Infants with congenital hypothyroidism are usually born at term or after term. Symptoms and signs include the following:
Why should children with cretinism be encouraged?
This should be encouraged in children with cretinism [4]. This is to help them in developing their motor skills.
How many newborns are affected by cretinism?
In countries such as North America, Japan, Australia, and Europe, cretinism occurs in 1 in 3000 to 4000 newborns.
What causes cretinism in the thyroid gland?
Here are some underlying causes of cretinism: 1. Hereditary in origin. A small percentage of cretinism patients have inherited anomalous genes that cause the thyroid gland to produce less thyroid hormone. This happens though there is no detected abnormality in the size and shape of the thyroid gland.
How early can you treat cretinism?
Cretinism Treatment. The main goal of the treatment is early detection and early initiation of treatment [5]. When the diagnosis is made early, within the first two weeks of life, the effects of this condition to the brain and nervous system can be prevented by the thyroid hormone replacement.
What is a cretinism?
Cretinism is a medical condition present at birth wherein there is a decreased or absent thyroid function and thyroid hormone production [1]. When untreated, this could lead to severely stunted physical and mental growth of the newborn [2]. This is also known as Congenital Hypothyroidism [3].
What causes cretinism?
Most cases of cretinism have no known cause. On the other hand, for the cases with determined causes, they are mostly caused by genetic mutations. These involve anomalies in the production of enzymes that are needed for the thyroid hormone synthesis [1]. Here are some underlying causes of cretinism:
What is the ratio of female to male cretinism?
Female to male ratio of cretinism is 2:1.