Cretinism - Types, Causes, Symptoms, Diagnosis and Treatment
Cretinism results from untreated congenital hypothyroidism during prenatal development, causing severe physical and mental retardation. Cretinism, types, causes, symptoms, diagnosis and treatment are provided below.
Krati Saraswat7 Jun, 2025
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Cretinism Definition: Cretinism is a medical condition that affects both physical and mental development. It is primarily caused by a deficiency in thyroid hormone, often resulting from inadequate dietary iodine intake. Symptoms of cretinism include stunted growth, fatigue, malnutrition, thickened facial features, abnormal bone development, and mental retardation. This article provides a comprehensive overview of cretinism, covering its types, causes, symptoms, prevention, diagnosis, treatment, and more.
Cretinism Meaning
Cretinism is a condition characterized by congenital hypothyroidism, which is the underactivity of the thyroid glands during early childhood. This condition leads to stunted growth and mental retardation.
The term "cretin" originated from the French word "chrétien," meaning "Christian" or "Christ-like," as those affected were perceived as mentally retarded and incapable of sin. Cretinism is classified as an iodine deficiency disorder that results from insufficient thyroid hormone activity during fetal, infant, or childhood stages. The thyroid gland, located in the neck region, is the most important endocrine gland in the human body. It secretes thyroid hormones, including triiodothyronine (T3) and tetraiodothyronine (T4). These hormones are synthesized within the follicular cells by iodinating tyrosine residues in a glycoprotein called thyroglobulin. Thyroid hormone plays a essential role in maintaining basal metabolic rate, oxidizing foodstuffs, and promoting growth and development during early life stages.Steps in Thyroid Hormone Synthesis and Secretion
Step 1: The synthesis of thyroglobulin occurs in follicular cells and is then released into the follicular lumen.Step 2: Iodide, in its anionic form, is transported into the follicular cell through active transport and then moves to the follicular lumen through facilitated diffusion, a process known as the Iodide trap.
Step 3: The oxidation of Iodide into Iodine occurs at the border of follicular cells.
Step 4: Iodine attaches to Tyrosine, catalyzed by the enzyme peroxidase, forming Monoiodotyrosine (MIT) and Diiodotyrosine (DIT).
Step 5: Iodinated tyrosines are linked together to form T3 and T4.
Step 6: Thyroglobulin colloid is endocytosed.
Step 7: T4 and T3 are cleaved from thyroglobulin by lysosomal enzymes, and the hormones are released from the follicular cell into the blood.
Cretinism Types
The medical condition known as cretinism can be classified into two main types:- Congenital Cretinism: This type is characterized by a genetic defect that affects the synthesis of thyroid hormones. It is also referred to as congenital hypothyroidism, non-goitrous (CHNG). The incidence rate ranges from 1:3000 to 1:4000 in areas where iodine is deficient. The genes responsible for encoding enzymes involved in thyroid hormone synthesis, such as thyroglobulin, iodotyrosine deiodinase, and thyroid-stimulating hormone, are affected in this type of cretinism. The genes associated with congenital hypothyroidism are named CHNG1 to CHNG5. Non-goitrous congenital hypothyroidism is considered the most common inborn endocrine disorder.
- Endemic Cretinism: This type primarily affects children living in areas with iodine deficiency, where the dietary intake of iodine is insufficient (usually less than 150µg/day). Even with iodine supplementation or thyroid hormone treatment, normal thyroid hormone levels may not be restored during early life. Maternal hypothyroidism during pregnancy, exposure to radioactive iodine, and the use of certain drugs during pregnancy are known risk factors for endemic cretinism. A maternal iodine intake as low as 25 mcg/day during pregnancy can increase the risk of giving birth to babies with cretinism.
- Neurological Cretinism: This subtype is characterized by features such as stunted growth, deaf-mutism, motor spasticity, severe mental retardation, and squint.
- Myxedematous Cretinism: This subtype is characterized by features such as stunted growth, incomplete maturation of facial expression, thickened and dry skin, small and dry hair, mental retardation of lesser intensity compared to neurological cretinism, delayed sexual maturation, and other clinical manifestations of hypothyroidism.
Cretinism Causes
Dietary iodine deficiency or insufficient thyroxine hormone secretion are the primary causes of congenital hypothyroidism worldwide. Iodine, an essential trace element, is necessary for thyroid hormone synthesis. Iodine deficiency represents the most widespread preventable cause of brain damage in newborns and children globally. Despite being present in various foods, iodine is not uniformly abundant in all soils. Several factors can lead to congenital hypothyroidism in newborns:- Absent, underdeveloped, or abnormally small thyroid gland
- Genetic abnormalities affecting thyroid hormone production
- Maternal iodine deficiency in the diet during pregnancy
- Thyroid cancer treatment involving radioactive iodine or antithyroid medication during pregnancy
- Use of antithyroid drugs, sulfonamides, or lithium during pregnancy, impacting thyroid hormone production
Cretinism Symptoms
Similar to other illnesses, individuals with cretinism display various symptoms. Some common and recognizable signs of cretinism include:- Delayed tendon reflexes
- Myxoedema
- Enlarged tongue
- Protruding abdomen
- Hearing impairment and speech defects
- Difficulty maintaining balance and posture, often with a distinctive walking style
- Decreased intelligence quotient (IQ)
- Thickened skin
- Deep, hoarse voice
- Enlarged thyroid gland, also known as goiter
- Often accompanied by mental retardation and stunted growth
- Umbilical hernia
- Delayed development of sexual characteristics
- Sparse nails and hair
- Dwarfism or short stature
- Reduced muscle tone and coordination, with mild neurological impairment
Cretinism Diagnosis
Cretinism, a severe form of congenital hypothyroidism, can be diagnosed using various methods:- Prenatal screening tests can detect congenital cretinism with severe hypothyroidism within the first month of life.
- A thyroid scan with technetium (Tc–99m pertechnetate) can be used to visualize the thyroid gland and assess its function.
- A test for radioactive iodine uptake (RAIU) can help differentiate between congenital absence and defects in the organification process of the thyroid gland.
- Guthrie’s test, a postnatal blood spot test, can also aid in the diagnosis of cretinism.
- Elevated levels of thyroid binding globulin (TBG) and thyroid-stimulating hormone (TSH) in the blood are indicative of cretinism.
- High levels of T3 and low levels of T4 in the blood are characteristic of cretinism.
Cretinism Treatment
Cretinism, a condition caused by congenital hypothyroidism, requires immediate and effective treatment to prevent irreversible developmental abnormalities and mental retardation. Treatment should ideally commence within the first 1-2 weeks of life, as early intervention is important for optimal outcomes.1. Diagnosis and Timely Treatment Initiation: Diagnosis of cretinism typically involves thyroid function tests and clinical evaluation. Once diagnosed, treatment should begin to prevent the onset of symptoms and irreversible damage.
2. Thyroxine Replacement Therapy: The cornerstone of cretinism treatment is thyroid hormone replacement therapy, usually in the form of levothyroxine. The recommended initial dosage is 10 to 15 micrograms per kilogram of body weight per day. Dosage adjustments are necessary as the individual ages to maintain optimal thyroid hormone levels.
3. Importance of Daily Treatment: Daily administration of thyroxine is essential to maintain adequate thyroid hormone levels in the body. Failure to adhere to daily treatment may result in inadequate hormone levels, leading to ongoing developmental abnormalities and mental retardation.
4. Reversibility of Symptoms: While mental retardation and developmental abnormalities that have already occurred are generally irreversible, early treatment can prevent further deterioration and may lead to some improvement in physical and mental development.
5. Administration of Thyroid Hormone: Parents can administer thyroid hormone pills to their newborns by crushing them and adding them to milk, formula, or water. Care should be taken when using formulas, as certain ingredients, such as soy protein and concentrate, can interfere with the absorption of thyroid hormone.
6. Long-Term Management: Long-term cretinism management involves regularly monitoring thyroid hormone levels and dosage adjustments as needed. Close collaboration with healthcare providers, including paediatric endocrinologists, is essential for optimal management and outcomes. In conclusion, early diagnosis and prompt initiation of thyroid hormone replacement therapy are essential in the treatment of cretinism. While some irreversible damage may have occurred, timely treatment can prevent further complications and improve the overall quality of life for affected individuals.
Cretinism And Myxedema
Cretinism and myxedema are both medical conditions associated with thyroid dysfunction, specifically hypothyroidism. This table provides a clear comparison between cretinism and myxedema:| Cretinism And Myxedema | ||
|---|---|---|
| Aspect | Cretinism | Myxedema |
| Definition | Congenital form of hypothyroidism in infants | Hypothyroidism in adults |
| Cause | Thyroid hormone deficiency during fetal development or early infancy | Untreated or inadequately treated hypothyroidism |
| Symptoms | Severe physical and mental developmental delays if left untreated | Generalised swelling, fatigue, weight gain, cold intolerance |
| Treatment | Thyroid hormone replacement therapy | Thyroid hormone replacement therapy |
| Complications | Severe developmental delays, if untreated | Serious health issues if left untreated |
Cretinism and Dwarfism
Cretinism and dwarfism are two distinct conditions that affect physical growth and development. Cretinism, also known as congenital hypothyroidism, is a condition caused by a deficiency in thyroid hormone during fetal development or early infancy. This deficiency can lead to stunted growth, intellectual disability, and physical deformities if not treated. On the other hand, dwarfism is a condition characterized by unusually short stature. It can result from various medical conditions, such as genetic disorders or hormonal abnormalities, affecting the body's growth processes. Individuals with dwarfism may have normal intelligence and lifespan, but their short stature sets them apart from the average population. Both conditions require careful medical management and support to address their unique challenges and ensure optimal health and quality of life for affected individuals. Physics Wallah offers top-notch online NEET classes designed for Indian students, aligning with the NEET syllabus. Our Lakshya Batch, the online coaching for NEET Class 12 , provides comprehensive materials and innovative methods. Join Now!| NEET Exam Important Links | |
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Cretinism FAQs
What is cretinism and its cause?
Cretinism is a condition characterized by severely stunted physical and mental growth, resulting from untreated congenital deficiency of thyroid hormones (congenital hypothyroidism). Congenital hypothyroidism can be endemic, genetic, or sporadic.
What are cretinism and myxedema?
Cretinism refers to hypothyroidism in children, where the failure of thyroid secretion leads to the retardation of growth in physical, mental, and sexual aspects. This condition arises from a deficiency of thyroid hormone. Myxoedema, on the other hand, is caused in adults due to a deficiency of thyroid hormones.
Which hormone deficiency causes cretinism?
Cretinism is caused by a deficiency of thyroid hormone, which is responsible for the body's metabolism and growth. Thyroxine deficiency leads to cretinism, and iodine is thyroxine's precursor. A diet lacking in iodine can result in the underdevelopment of the thyroid gland.
Is cretinism a result of hyposecretion or hypersecretion?
Cretinism is a disorder caused by the hyposecretion of thyroid hormones (specifically thyroxine) in children. It is characterized by stunted physical and mental growth. Myxoedema, on the other hand, is caused by the deficiency of thyroxine hormone in adults.
What is the treatment for cretinism?
Thyroid hormone replacement therapy involves supplementing the deficient thyroid hormones with synthetic hormones, such as Levothyroxine or Liothyronine.
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