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Cretinism and Myxedema

A Brief Overview of Cretinism and Myxedema

Cretinism and Myxedema are two distinct thyroid conditions with distinct features and causes. Cretinism is a congenital condition caused by untreated congenital hypothyroidism present at birth and often resulting in stunted physical development, intellectual disability, and characteristic facial features like puffy cheeks, flattened nose and protruding tongue.

Early diagnosis and prompt treatment with thyroid hormone replacement therapy are key in order to avoid irreversible developmental issues in a child. Myxedema typically emerges during adulthood due to untreated or inadequately managed hypothyroidism due to primary thyroid dysfunction or malfunction of the pituitary or hypothalamus (secondary hypothyroidism).

Symptoms may include fatigue, weight gain, depression and cold intolerance with treatment typically consisting of lifelong thyroid hormone replacement therapy to restore levels and alleviate symptoms any delays between diagnosis and treatment could have serious repercussions for health.

Cretinism is a congenital condition most often affecting children; myxedema, on the other hand, typically affects adults. Both disorders result from inadequate thyroid hormone production or function but have different clinical presentations and treatment approaches.

What is Cretinism?

Cretinism is an extremely rare and serious congenital condition caused by insufficient thyroid hormone production at birth. The thyroid gland, located at the base of the neck, plays an integral part in producing hormones necessary to regulating various bodily processes like growth and metabolism; when born without an active or absent thyroid gland it cannot produce enough of these essential hormones, leading to cretinism.

Cretinism has far-reaching repercussions for both physical and intellectual development, often manifesting itself in stunted physical growth as evidenced by short stature, delayed skeletal maturation and distinct facial features such as puffy cheeks, flattened nose and protruding tongues.

Figure 01: Cretinism

Cretinism can have devastating repercussions for children’s intellectual and developmental abilities, with children afflicted by it typically experiencing severe intellectual disabilities, delayed speech and motor skills development as well as developmental challenges during early developmental stages.

Without enough thyroid hormones during key early periods of growth, those affected typically exhibit severe intellectual disabilities as well as delays in speech and motor abilities as well and developmental challenges.

Thankfully, cretinism can be prevented and treated successfully. Many countries have instituted newborn screening programs to identify affected infants promptly. With early identification comes early treatment with thyroid hormone replacement therapy

This may alleviate or even prevent physical and cognitive complications associated with cretinism. With proper medical management and timely intervention individuals with cretinism can lead relatively normal lives while reaching their developmental potential.

Types of Cretinism

Cretinism, a severe and congenital form of hypothyroidism, can be divided into two main subcategories depending on when and why symptoms first manifest.

Endemic Cretinism: Endemic cretinism is more common in regions with insufficient iodine levels. Iodine is essential to the production of thyroid hormones, and without enough in their diets, people may become vulnerable to developing endemic cretinism often leading to intellectual disabilities and physical abnormalities across entire communities. Iodized salt has proven an effective measure against this form of cretinism in numerous locations worldwide.

Sporadic Cretinism: Sporadic cretinism occurs when an individual is born with congenital hypothyroidism due to causes other than an iodine deficiency, such as genetic mutations or abnormalities that disrupt thyroid development or function. Unlike its endemic counterpart, sporadic cretinism does not depend on community-wide levels of iodine deficiency rather, individual genetic or developmental factors may play a part in its onset.

Both forms of cretinism share common features, such as stunted physical growth, intellectual and developmental impairments, and specific facial features. While their causes and risk factors may differ significantly from one another, early diagnosis and tailored treatment approaches based on type and cause are critical in order to effectively address cretinism symptoms and mitigate any associated intellectual or developmental disabilities.

Early thyroid hormone replacement therapy remains the go-to treatment solution for both endemic and sporadic forms of cretinism in order to address developmental and intellectual disability associated with both forms.

What is Myxedema?

Myxedema, more commonly referred to as severe hypothyroidism, is a condition caused by low levels of thyroid hormones thyroxine (T4) and triiodothyronine (T3) in the body. The thyroid gland located in the neck produces these essential hormones for metabolism regulation, energy production and other bodily processes. Myxedema occurs due to this deficiency.

Myxedema occurs when either an inadequate amount of thyroid hormones are produced or they fail to perform their intended duties properly, leading to myxedema. Symptoms typically manifest themselves gradually over a number of months or years and typically affect adults.


Figure 02: Myxedema

Although anyone of any age could develop myxedema. Possible causes may include Hashimoto’s disease (autoimmune thyroiditis), thyroid surgery, or radiation therapy to the neck region.

Myxedema’s hallmark symptoms include extreme fatigue, weight gain, cold intolerance, dry and pale skin, puffy face puffiness, and swelling in various parts of the body – particularly around the eyes and ankles. Mental and emotional symptoms such as depression, confusion, and memory loss may also occur.

Myxedema can lead to serious complications if left untreated, including myxedema coma a potentially life-threatening condition characterized by extreme lethargy, confusion, and temperature drop. This condition can be successfully managed using thyroid hormone replacement therapy.

lifelong medication helps regulate hormone levels, alleviate symptoms, prevent complications, and ensure healthy and fulfilling lives for individuals living with myxedema. Regular monitoring and adjustments may be required in order to maintain optimal thyroid hormone levels.

Types of Myxedema

Myxedema may take on many forms depending on its underlying cause and clinical presentation:

  • Primary Hypothyroidism: This form of myxedema is the most prevalent and typically results when the thyroid fails to produce sufficient thyroid hormones, whether from Hashimoto’s disease, surgical removal of its gland, radiation therapy to the neck area or other factors compromising its functions. Common symptoms associated with primary hypothyroidism can include fatigue, weight gain, cold intolerance, dry skin and puffy appearance.
  • Secondary Hypothyroidism: Under this form, the thyroid gland remains structurally intact but does not receive sufficient stimulation from either the pituitary gland or hypothalamus, which regulates thyroid hormone production. Secondary hypothyroidism may result from pituitary or hypothalamic disorders, tumors or radiation therapy treatments and symptoms are similar to primary hypothyroidism but also include symptoms related to any associated issues in these areas.
  • Myxedema Coma: Myxedema Coma is a serious, life-threatening form of myxedema characterized by extremely low thyroid hormone levels. This condition usually manifests itself among elderly individuals suffering from long-standing untreated hypothyroidism; symptoms include extreme lethargy, confusion, low body temperature and other indicators of organ failure. Immediate medical attention and hospitalization is required.

 Difference Between Cretinism and Myxedema

Here’s a comparison chart highlighting the key differences between Cretinism and Myxedema:

Aspect Cretinism Myxedema (Severe Hypothyroidism)
Onset Present from birth (congenital) Typically acquired in adulthood
Causes Congenital hypothyroidism due to thyroid gland abnormalities Primary hypothyroidism (thyroid gland dysfunction) or secondary hypothyroidism (issues with pituitary or hypothalamus)
Age of Onset Infancy or childhood Typically in adulthood
Physical Features – Stunted growth – Puffy face – Flattened nose – Protruding tongue – Fatigue – Weight gain – Cold intolerance – Dry, pale skin – Puffiness around the eyes and ankles
Intellectual Impairment Common; severe cognitive and developmental delays Cognitive function may be impaired, but typically not as severe as in cretinism
Diagnosis Clinical examination, blood tests measuring thyroid hormone levels, and imaging (if necessary) Clinical examination and blood tests to measure thyroid hormone levels
Treatment Hormone replacement therapy with thyroid hormones to normalize levels Lifelong thyroid hormone replacement therapy to alleviate symptoms and prevent complications
Prognosis Improved with early intervention and treatment, but cognitive impairments may persist Excellent prognosis with proper treatment, but symptoms may recur if medication is not taken consistently
Preventability Can be prevented with newborn screening and early hormone replacement therapy Prevention through early diagnosis and appropriate treatment of underlying hypothyroidism

Symptoms of Cretinism and Myxedema

Cretinism is a congenital form of hypothyroidism that first manifests during infancy or childhood and manifests early in life, typically during infancy or childhood.

Physical Traits of Cretinism:

  • Stunted Growth: Children affected by Cretinism may show significant height and weight deficits.
  • Distinctive Facial Features: These may include puffy cheeks, flattened nose, protruding tongue.
  • Delayed Skeletal Development: Bones may develop more slowly compared to those without intellectual and developmental impairments. Intellectual and

Developmental Impairments:

  • Severe intellectual disability: Cretinism often results in severe intellectual disability.
  • Delayed motor skills: Delays may arise in crawling, walking, and other milestones as a result.
  • Speech delays: Delay speech development can also be common.

Other symptoms:

  • Fatigue and lethargy: Cretinism may also present with additional symptoms that must be managed carefully.
  • Fatigue and lethargy: Children suffering from Cretinism often appear excessively tired.
  • Poor muscle tone: Constipation may occur, while Poor muscle tone such as weakness and floppiness often characterize it.

Myxedema (Severe Hypothyroidism) symptoms:

Myxedema primarily affects adults, and its symptoms usually emerge gradually over time.

Common indicators of myxedema may include:

  • Fatigue: Fatigue is often an overwhelming feeling that can last for years and months at a time, especially after exertion or during times of physical stress.
  • Weight Gain: An unexplained increase in body weight that has occurred despite having either normal or reduced appetite levels.
  • Cold Intolerance: Increased sensitivity to cold temperatures.
  • Flaky Skin: Skin can become dry, and rough, and may experience flakiness over time.
  • Puffiness: Swelling in and around the eyes and face, commonly referred to as periorbital edema.
  • Mental and Emotional Symptoms: Symptoms may include depression, memory problems, difficulty focusing, and slower mental processes.
  • Hoarseness: Changes in voice due to swollen vocal cords.
  • Hair and Nail Changes: Brittle locks and nails are commonplace.
  • Constipation: Constipation can be an unpleasant side effect of gastrointestinal issues and should be taken seriously.
  • Bradycardia: Decreased heart rate leading to decreased pulse rates.

Causes of Cretinism and Myxedema

Cretinism and Myxedema differ significantly in both nature and cause; each condition presents its own set of challenges that vary significantly in its manifestation and progression.

Causes of Cretinism:

Congenital Hypothyroidism:

  • Cretinism can be traced to congenital hypothyroidism, in which newborns have either underactive or completely absent thyroid glands at birth. Multiple factors may contribute to congenital hypothyroidism:
  • Genetic mutations that alter thyroid development or function.
  • Thyroid gland abnormalities, including its absence or underdevelopment.
  • Pregnancy-related factors that include maternal factors like an insufficient intake of iodine or exposure to antithyroid medications or radiation exposure could negatively impact fetal thyroid function.

Iodine Deficiency:

  • Regions suffering from an inadequate intake of iodine may experience a higher incidence of congenital hypothyroidism and lead to widespread cretinism.
  • An inadequate iodine supply during gestation can hinder development and function of fetal thyroid gland, ultimately resulting in infants born with this disorder being diagnosed as having cretinism.

Causes of Myxedema (Severe Hypothyroidism):

Primary Hypothyroidism:  Myxedema often results from primary hypothyroidism, in which the thyroid fails to produce enough thyroid hormones.

Common causes include:

  • Autoimmune Thyroiditis (Hashimoto’s Disease): When your immune system incorrectly attacks and damages the thyroid gland.
  • Thyroid Surgery: For various reasons, part or all of the thyroid gland may need to be surgically removed for various purposes.
  •  Radiation Therapy: Radiation Therapy for head or neck cancer treatment can damage thyroid gland function as well.
  • Medications: Certain drugs such as lithium, interferon or amiodarone may interfere with thyroid function.
  • Congenital Thyroid Disorders: Rare genetic conditions affecting the thyroid gland may disrupt its functionality.

Secondary Hypothyroidism:

  • Myxedema can also occur as the result of secondary hypothyroidism, in which the thyroid gland remains structurally sound but doesn’t receive enough stimulation from either the pituitary gland or hypothalamus to produce sufficient hormone levels.
  • Possible causes may include tumors in these areas or radiation exposure that disrupts this communication between brain structures.

Diagnosis and Treatment

Diagnosis of Cretinism and Myxedema

Cretinism and Myxedema (severe hypothyroidism) can typically be diagnosed through clinical evaluation, laboratory tests, and in some instances imaging studies.

Diagnosing Cretinism:

Clinical Evaluation:

  • Physical Examination: Physicians typically look out for physical symptoms indicative of cretinism, including stunted growth, characteristic facial features (puffy cheeks, flatten nose and protruding tongue) as well as any signs of developmental delay or delay.
  • Family History: Investigate whether there is any family history of thyroid diseases or congenital hypothyroidism as this could offer crucial clues.

Laboratory Tests:

  • Thyroid Function Tests: Blood tests to measure levels of thyroid hormones (T4 and T3) as well as thyroid-stimulating hormone (TSH) may be conducted, while in those suffering from cretinism the levels are usually low while TSH may increase.
  • Thyroid Antibodies: Testing for thyroid-specific antibodies may help pinpoint the source of thyroiditis (Hashimoto’s disease) symptoms.

Newborn Screening:

  • Many countries have implemented newborn screening programs to identify congenital hypothyroidism, including cretinism, shortly after birth. A blood sample taken from a baby’s heel will assess thyroid hormone levels; early detection through newborn screening allows for immediate treatment options.

Diagnosis of Myxedema

Clinical Evaluation:

  • Medical History: When conducting a clinical examination, healthcare providers collect information regarding symptoms, medical history and any potential risk factors associated with hypothyroidism.
  • Physical Exam: Conducting a physical examination can reveal classic indicators of myxedema, such as fatigue, weight gain, puffiness and dry skin as well as changes to facial features.

Laboratory Tests:

  • Thyroid Function Tests: Blood tests to measure TSH, T4, and T3 levels can also help evaluate myxedema; typically, T4 and T3 levels tend to be low while TSH levels tend to be elevated.
  • Thyroid Antibodies: When autoimmunity is suspected in thyroiditis cases, testing may be conducted on antibodies from the thyroid to verify their origins as an autoimmune process.

Imaging Studies:

  • Imaging studies such as thyroid ultrasound or scans may be used to evaluate the structure and function of the thyroid gland as well as detect structural anomalies that could indicate structural malignancy or dysfunction.

Additional Tests:

  • Based on clinical presentation, additional tests may be necessary to detect complications or possible causes for hypothyroidism such as pituitary or hypothalamic disorders.

Treatment of Cretinism and Myxedema

Treatment of Cretinism:

  • Hormone Replacement Therapy: Infants and children diagnosed with congenital hypothyroidism will require immediate and lifelong thyroid hormone replacement therapy using synthetic levothyroxine (L-T4); its dosage must be tailored specifically to the child based on age, weight and thyroid hormone levels to ensure effective hormone replacement therapy.
  • Early Intervention: Early diagnosis and initiation of treatment are vital in order to prevent severe physical and intellectual disabilities associated with Cretinism, particularly for newborns identified through newborn screening programs who typically receive their therapy soon after being born.
  • Regular Monitoring: Children diagnosed with Cretinism should undergo routine thyroid function tests and regular follow-up visits to monitor hormone levels and adjust medication as they grow.

Treatment for Myxedema (Severe Hypothyroidism):

  • Hormone Replacement Therapy: Adults diagnosed with Myxedema can also receive hormone replacement therapy in the form of synthetic levothyroxine or other thyroid hormone preparations to replace deficient hormone levels and supplement them. Dosage recommendations vary based on individual age, weight and levels of thyroid hormone production.
  • Lifelong Treatment: Myxedema is usually a lifelong condition, so treatment must continue indefinitely to restore normal thyroid hormone levels and relieve symptoms. Patients must adhere to their medication schedule strictly in order to achieve effective relief from Myxedema.
  • Comprehensive Treatment: When Myxedema results from secondary hypothyroidism, its underlying cause (e.g. pituitary or hypothalamic disorders) should also be managed alongside thyroid hormone replacement therapy.
  • Regular Follow-up: Myxedema patients require ongoing medical supervision and regular blood tests in order to monitor thyroid function and medication effectiveness.
  • Management of Complications: Myxedema may progress to Myxedema Coma, an incapacitating condition requiring hospitalization and intensive care measures such as intravenous thyroid hormone replacement therapy and supportive measures for its management.

What are the risk factors for Cretinism and Myxedema

Risk Factors for Cretinism:

  • Maternal Iodine Deficiency: Pregnant women who consume inadequate levels of iodine during gestation run an increased risk of giving birth to infants with congenital hypothyroidism, potentially resulting in Cretinism in their infants. Iodine plays an integral part in producing thyroid hormones; any deficiency can inhibit this production and impair fetal thyroid development.
  • Family History: If there is a family history of thyroid conditions or congenital hypothyroidism, newborns’ risk for Cretinism increases substantially. Genetic factors play a key role in the formation of thyroid abnormalities.
  • Maternal Medications: Certain drugs taken by pregnant women during their gestation period – such as antithyroid drugs, lithium or amiodarone – can interfere with fetal thyroid function and contribute to congenital hypothyroidism and Cretinism.
  • Maternal Radiation Exposure: Exposure of pregnant mothers’ neck or head area during gestation to radiation may impede fetal thyroid development, increasing their risk for Cretinism upon birth.
  • Thyroid Abnormalities: Any structural or developmental anomalies within the fetal thyroid gland itself may result in congenital hypothyroidism and Cretinism.

Risk Factors for Myxedema :

  • Autoimmune Thyroiditis (Hashimoto’s Disease): People who have had an autoimmune thyroiditis diagnosis in their family are at an increased risk for primary hypothyroidism and Myxedema. Autoimmune thyroiditis is also one of the main contributors to severe hypothyroidism among adults.
  • Thyroid Surgery or Radiation Therapy: Individuals who have undergone thyroid surgery or radiation therapy in order to treat cancer run the risk of hypothyroidism and Myxedema.
  • Medication: Medication such as Amiodarone for heart arrhythmias or Interferon used for medical conditions can interfere with thyroid function and increase the risk of hypothyroidism, including Myxedema.
  • Pituitary or Hypothalamic Disorders: People suffering from pituitary tumors or hypothalamic issues can sometimes develop secondary hypothyroidism leading to Myxedema.
  • Age and Gender: Myxedema tends to affect more women, particularly as individuals age.

How can you prevent Cretinism and Myxedema?

Prevention of Cretinism:

  • Iodine Supplementation: Assuring pregnant women have sufficient intakes of iodine is critical in avoiding Cretinism. One common and effective form of supplementing deficient regions with inadequate levels is through using iodized salt public health efforts encouraging its use can significantly lower risks related to congenital hypothyroidism due to insufficient levels of iodine intake during gestation.
  • Newborn Screening: Establishing and maintaining newborn screening programs within healthcare systems are of utmost importance, especially since newborn screening can detect congenital hypothyroidism early and facilitate prompt treatment as well as the avoidance of Cretinism.
  • Newborn Screening: For infants diagnosed with congenital hypothyroidism, early intervention with thyroid hormone replacement therapy is critical to keeping their levels within normal limits and avoiding Cretinism-related complications. Healthcare providers should ensure these children receive lifelong therapy to regulate thyroid levels and avoid complications associated with Cretinism.

Prevention of Myxedema:

  • Prevention of Myxedema: Manage Underlying Thyroid Conditions: For best results in treating any underlying thyroid conditions such as Hashimoto’s disease or thyroid surgery scarring, work closely with your healthcare provider in managing these effectively and regularly visit for check-ups and function monitoring of the thyroid gland.
  • Medication Management: If you are taking medications that could adversely impact thyroid function, consult with a healthcare provider immediately. They can adapt your regimen or monitor thyroid activity so as to reduce your risk of hypothyroidism and Myxedema.
  • Radiation Therapy Precautions: If you require radiation therapy for head or neck cancer or any other condition, be sure to inform your healthcare team about its possible effects on the thyroid gland. They can take steps to protect it as best as possible while providing appropriate replacement therapy if required.
  • Maintain a Healthy Lifestyle: Strive to live a healthier lifestyle through proper eating and physical activity, Although this alone may not prevent Myxedema; they can contribute towards well-being as well as supporting thyroid health.


Cretinism and Myxedema are two distinct thyroid conditions with distinct features and symptoms. Cretinism is a congenital condition, typically due to hypothyroidism in infancy.

The symptoms include stunted growth, distinct facial features, and severe intellectual and developmental impairment. Early diagnosis through clinical examination and hormone level testing is key, while lifelong replacement therapy with thyroid hormone can significantly enhance outcomes.

Myxedema, commonly known as severe hypothyroidism, generally arises in adulthood and can have various causes – primary or secondary hypothyroidism being common. Thyroid conditions often manifest with fatigue, weight gain, cold intolerance, and puffiness that respond well when treated quickly with lifelong thyroid hormone replacement therapy.

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