December 3, 2025

Cretinism

Cretinism is an old medical word for a very severe form of congenital hypothyroidism. This means a baby is born with very low thyroid hormone, usually from before birth, and it is not treated early. The low hormone level harms the baby’s brain and body growth, leading to permanent intellectual disability and short stature if treatment is delayed.PMC+1

Cretinism is an old medical word for a severe form of congenital hypothyroidism, which means a baby is born with very low thyroid hormone levels. Today doctors usually say congenital hypothyroidism or congenital iodine deficiency syndrome, because “cretinism” has become hurtful in everyday language. The condition is usually caused either by severe iodine deficiency in the mother during pregnancy or by problems in the baby’s thyroid gland (missing, small, or not working). Without treatment, the child can develop poor growth, delayed brain development, deaf-mutism, spasticity, and facial and skeletal changes.Wikipedia+2PMC+2

In modern health systems, most babies are picked up quickly through newborn screening (a heel-prick blood test), and treatment with synthetic thyroid hormone (thyroxine, T4) is started within days of birth. Early diagnosis and correct treatment can prevent almost all long-term damage, so many new cases are now avoided in countries with screening and iodized salt programs.Grokipedia+3Wikipedia+3Medscape+3

Today, doctors usually avoid the word “cretinism” because it has become insulting in everyday language. Instead, they say “congenital hypothyroidism” or “congenital iodine-deficiency syndrome” when the cause is lack of iodine in the mother’s diet. These newer terms are kinder and more exact, but older books may still use “cretinism.”Wikipedia+1

In many countries, newborn babies are now tested for thyroid problems in the first days of life. If low thyroid hormone is found early and treatment with levothyroxine (artificial thyroid hormone) starts quickly, almost all babies can grow and learn normally. This is why early diagnosis is extremely important.NCBI+2Cleveland Clinic+2

Other names for cretinism

Doctors and books may use several other names that mean the same or almost the same as cretinism. These names describe the cause or the main problem more clearly.

“Congenital iodine-deficiency syndrome” is used when the main cause is lack of iodine in the mother’s food and in the local water and soil. It is sometimes called “endemic cretinism,” especially in mountain or inland areas where many people are iodine deficient.Wikipedia+1

“Severe congenital hypothyroidism” describes babies born with very low thyroid hormone that is not corrected in time. If this severe hormone lack continues during the first months and years of life, the child may develop the full picture that older doctors called cretinism.PMC+2NCBI+2

Types of cretinism

Doctors have described several ways to classify cretinism and related conditions. The word “type” here helps us understand the different patterns.

  • Endemic cretinism – occurs in regions where many people share the same problem of iodine deficiency in the soil and diet, so many babies are affected.Wikipedia+1

  • Sporadic cretinism – occurs in single babies or a few babies in an area that is not known for iodine deficiency, often due to individual thyroid gland defects.PMC+1

  • Neurological cretinism – main problems are brain-related, including severe intellectual disability, deaf-mutism, and movement problems, with less obvious low-thyroid body signs.ScienceDirect+1

  • Myxedematous cretinism – main problems are severe long-lasting hypothyroidism with short stature, thick puffy skin (myxedema), coarse facial features, and delayed bone growth.Grokipedia+1

  • Congenital hypothyroidism with thyroid dysgenesis – the thyroid gland is missing, too small, or in the wrong place (ectopic), leading to very low hormone from birth.NCBI+2Bangladesh Journals Online+2

Causes of cretinism

Cretinism always means long-lasting, untreated hypothyroidism that starts very early in life. Many different problems can lead to this.

  1. Severe maternal iodine deficiency
    If a pregnant woman eats very little iodine for a long time, her thyroid cannot make enough hormone. The baby also gets too little hormone and iodine, which can damage the developing brain and body, leading to congenital iodine-deficiency syndrome (endemic cretinism).Wikipedia+1

  2. Complete absence of the thyroid gland (thyroid agenesis)
    Some babies are born without a thyroid gland at all. Because there is no gland to make hormone, the baby’s thyroid hormone level is very low from birth, and severe permanent problems can occur if treatment is not started quickly.NCBI+2Bangladesh Journals Online+2

  3. Very small thyroid gland (thyroid hypoplasia)
    In some babies, the thyroid gland is present but under-developed and too small. This small gland cannot make enough hormone for the growing baby, which can lead to severe hypothyroidism and the features of cretinism if not treated.Bangladesh Journals Online+1

  4. Ectopic thyroid gland (thyroid in the wrong position)
    Sometimes the thyroid gland does not move to its normal place in the neck during early development and remains high in the tongue or elsewhere. This ectopic gland is often small and weak, causing low hormone levels in the newborn baby.Bangladesh Journals Online+1

  5. Dyshormonogenesis (thyroid hormone production defects)
    In some families, inherited enzyme problems stop the thyroid gland from making hormone properly, even when the gland is normal size. These defects, called dyshormonogenesis, can be passed down and cause severe congenital hypothyroidism.IJPediatrics+2SpringerLink+2

  6. Gene changes in thyroid development factors
    Certain genes control how the thyroid forms and works. Changes (mutations) in these genes can lead to thyroid dysgenesis, where the gland is missing, small, or ectopic, causing very low hormone and risk of cretinism when untreated.SpringerLink+1

  7. Maternal antithyroid drug use in pregnancy
    Some medicines used to treat overactive thyroid in the mother, such as antithyroid drugs, can cross the placenta and block the baby’s thyroid hormone production, especially if doses are high or taken late in pregnancy.DynaMed+1

  8. Maternal TSH-receptor blocking antibodies
    Mothers with certain autoimmune thyroid diseases can make antibodies that cross the placenta and block the baby’s TSH receptors. This prevents the baby’s thyroid gland from responding to TSH and making hormone, leading to temporary but sometimes severe hypothyroidism.DynaMed+1

  9. Excess iodine exposure in mother or newborn
    Very high iodine exposure from medicines, contrast dyes, or antiseptics can briefly “shut down” the baby’s thyroid gland (Wolff–Chaikoff effect). In some babies, especially premature ones, this leads to prolonged low thyroid hormone levels.DynaMed+2Bangladesh Journals Online+2

  10. Neonatal iodine deficiency after birth
    If a baby in an iodine-poor area continues to receive very little iodine in feeds, the thyroid cannot make enough hormone. The ongoing deficiency can turn early mild hypothyroidism into severe long-term damage.Wikipedia+1

  11. Central hypothyroidism from pituitary defects
    Sometimes the baby’s pituitary gland does not make enough TSH, the hormone that tells the thyroid to work. This central (secondary) hypothyroidism leads to low thyroid hormone without a high TSH, and can also harm growth and development.NCBI+2Orpha+2

  12. Central hypothyroidism from hypothalamic defects
    The hypothalamus in the brain must make TRH to trigger TSH release. Developmental or genetic problems in this area can reduce TRH and TSH, causing central congenital hypothyroidism and the risk of cretinism if not recognized.NCBI+1

  13. Mother’s untreated or severe hypothyroidism
    If a pregnant woman herself has very low thyroid hormone and is not treated properly, the baby may be exposed to low hormone levels in the womb. This can contribute to poor brain development and later problems.PMC+2Cleveland Clinic+2

  14. Premature birth with immature thyroid function
    Preterm babies may have an immature hypothalamic–pituitary–thyroid axis and a small thyroid gland. They are more likely to have low hormone levels, especially if they also lack iodine or are ill, and this can become severe if it is not monitored and treated.NCBI+2Orpha+2

  15. Surgical removal or destruction of the thyroid in infancy
    Very rarely, babies or young children need thyroid surgery or radioiodine therapy for tumors or severe problems. Loss or destruction of the gland without timely hormone replacement can lead to severe hypothyroidism similar to cretinism.NCBI+1

  16. Radioiodine exposure to the fetus
    If a pregnant woman receives radioactive iodine, it can destroy the baby’s developing thyroid gland. This may cause permanent congenital hypothyroidism if adequate hormone replacement is not provided after birth.NCBI+1

  17. Congenital liver vascular tumors (hemangiomas)
    Large liver hemangiomas in newborns can break down thyroid hormone very fast due to high levels of a hormone-inactivating enzyme. This rare situation can cause severe hypothyroidism in early life.SpringerLink+1

  18. Genetic syndromes affecting thyroid and brain
    Some syndromes, such as certain forms of thyroid hormone resistance or complex developmental disorders, include abnormal thyroid development or function. These combined genetic problems can lead to severe, early hypothyroidism.MedlinePlus+1

  19. Defects in thyroid hormone transport or metabolism
    Rare inherited problems can affect how thyroid hormone is transported in blood or used in tissues. Even if levels look normal, the hormone may not work properly, leading to developmental problems similar to hypothyroidism.MedlinePlus+1

  20. Prolonged transient neonatal hypothyroidism
    Some babies have “transient” hypothyroidism from medicines, antibodies, or iodine issues. If this low hormone state is not recognized and continues for many months, it can still cause permanent injury to brain and body growth.Bangladesh Journals Online+2Bangladesh Journals Online+2

Symptoms of cretinism

Signs and symptoms depend on how early and how severe the hormone lack is. Many babies look normal at birth, and symptoms appear slowly over weeks and months.

  1. Poor feeding and weak sucking
    Many affected babies have trouble feeding, suck weakly, or tire quickly during feeds. They may gain weight slowly and may be labeled as “poor feeders,” which should raise concern for congenital hypothyroidism.PMC+2Bangladesh Journals Online+2

  2. Excessive sleep and low activity
    Babies with severe hypothyroidism often sleep too much and move very little. Parents may think they are “very good babies,” but this low activity can be an early warning sign.PMC+2Orpha+2

  3. Constipation
    Slow bowel movement is common because low thyroid hormone slows gut motility. Parents may notice infrequent, hard stools, which can persist without treatment.PMC+2Bangladesh Journals Online+2

  4. Prolonged neonatal jaundice
    Jaundice that lasts more than two weeks, especially with pale stools and dark urine, can be linked to congenital hypothyroidism. An umbilical hernia together with prolonged jaundice is a strong clue.PMC+2ScienceDirect+2

  5. Puffy face and swollen body (myxedematous facies)
    The face may look puffy, with swollen eyelids and a broad, dull expression. Hands and feet can also look swollen. This myxedema is typical in more advanced cases.Bangladesh Journals Online+2jmatonline.com+2

  6. Large tongue (macroglossia)
    A very large tongue may hang out of the mouth and interfere with feeding or breathing. It gives a typical facial appearance that is often seen in older descriptions of cretinism.Medscape+2jmatonline.com+2

  7. Umbilical hernia
    The belly button area may stick out due to weakness in the abdominal wall, forming an umbilical hernia. This is frequently reported in babies with congenital hypothyroidism.ScienceDirect+2jmatonline.com+2

  8. Large fontanelles and wide skull sutures
    The soft spots on the head (fontanelles) may be bigger than normal and close late. Skull bones may separate more than usual. This happens because bone growth and maturation are slowed.Medscape+2Orpha+2

  9. Dry, cold, and mottled skin with coarse hair
    The skin may feel cool, rough, and mottled, and the hair may be dry, sparse, or brittle. These changes reflect slow metabolism and poor blood flow in the skin.Medscape+2jmatonline.com+2

  10. Poor growth and short stature
    Children with long-standing hypothyroidism grow slowly and become short compared with other children. Without treatment, adult height can be very low, as described in endemic cretinism.Wikipedia+2Orpha+2

  11. Delayed motor development
    Babies may sit, stand, and walk much later than expected. The delay in motor milestones reflects weak muscles, low tone, and impaired brain development.Medscape+2Orpha+2

  12. Intellectual disability and learning problems
    If low thyroid hormone is not corrected early, the child can develop moderate to severe intellectual disability. They may have difficulty with speech, understanding, school learning, and daily tasks, which is central to the older idea of cretinism.PMC+2Wikipedia+2

  13. Hearing loss or deaf-mutism
    Many children with severe congenital hypothyroidism have hearing impairment. In endemic cretinism, deaf-mutism is a classic feature. Special hearing tests often show sensorineural hearing loss.PMC+2ResearchGate+2

  14. Slow heart rate and low body temperature
    The pulse may be slow and the body temperature lower than normal. This reflects the general slowing of all body systems when thyroid hormone is very low.NCBI+2Cleveland Clinic+2

  15. Delayed puberty and sexual development
    In later childhood and teenage years, untreated hypothyroidism can delay puberty. Menstruation may start late, and fertility may be reduced in adults with severe long-standing disease.Wikipedia+2Orpha+2

Diagnostic tests for cretinism

Doctors use a mix of clinical checks and technical tests to diagnose congenital hypothyroidism and its severe forms. These tests help confirm low thyroid hormone, find the cause, and detect complications such as hearing loss.

  1. Overall physical examination and growth charting (physical exam)
    The doctor examines the baby’s general appearance, weight, length, and head size, and plots them on growth charts. Poor growth, puffy features, large tongue, and other signs raise suspicion of congenital hypothyroidism.PMC+2Orpha+2

  2. Detailed skin and hair examination (physical exam)
    The skin is checked for dryness, coolness, mottling, and thickening, and the hair is checked for dryness and loss. These changes are common clues in infants with untreated hypothyroidism.Bangladesh Journals Online+2Medscape+2

  3. Abdominal examination for umbilical hernia (physical exam)
    The doctor gently feels and looks at the abdomen to find an umbilical hernia or abdominal bloating. An umbilical hernia together with prolonged jaundice and poor growth strongly suggests congenital hypothyroidism.ScienceDirect+2jmatonline.com+2

  4. Neurological examination of tone and reflexes (physical exam)
    Muscle tone, strength, and tendon reflexes are tested. Babies may be floppy (hypotonic) and have delayed reflexes. This exam helps measure how much the nervous system is affected.PMC+2Orpha+2

  5. Developmental milestone assessment tools (manual test)
    Simple checklists or formal tools are used to see when the baby smiles, holds the head, sits, walks, and says words. Marked delay in several areas supports the diagnosis of long-standing hypothyroidism.Orpha+1

  6. Bedside hearing check with simple sounds (manual test)
    The doctor or nurse may use a bell, rattle, or voice to see whether the baby turns to sound. Poor response suggests the need for more detailed hearing tests for hypothyroidism-related hearing loss.PMC+2ResearchGate+2

  7. Manual assessment of skull fontanelles and sutures (manual test)
    The soft spots on the skull and the lines where skull bones meet are gently felt. Large or delayed-closing fontanelles and wide sutures are typical findings in long-standing congenital hypothyroidism.Medscape+2Orpha+2

  8. Newborn screening heel-prick TSH/T4 test (lab/pathological)
    In most countries, a drop of blood from the baby’s heel is taken on a filter paper in the first days of life. High TSH and/or low T4 on this screening test is the main way congenital hypothyroidism is picked up early.NCBI+2Medscape+2

  9. Serum TSH (thyroid-stimulating hormone) test (lab/pathological)
    A blood sample from a vein is tested for TSH. In primary congenital hypothyroidism, TSH is usually high because the pituitary is trying to push the thyroid to make more hormone.NCBI+2Bangladesh Journals Online+2

  10. Serum free T4 (thyroxine) test (lab/pathological)
    Free T4 shows the active hormone available in blood. In primary hypothyroidism, free T4 is low while TSH is high, which confirms the diagnosis and guides treatment.NCBI+2IJPediatrics+2

  11. Total T4 and T3 measurements (lab/pathological)
    Sometimes total T4 and T3 are measured along with free T4. These tests give more detail about how severe the hormone deficiency is and help in special cases, such as binding protein problems.NCBI+1

  12. Thyroglobulin test (lab/pathological)
    Thyroglobulin is a protein made by thyroid cells. Measuring it can help tell whether thyroid tissue is present. Very low levels may suggest thyroid agenesis, while higher levels may suggest dyshormonogenesis.Bangladesh Journals Online+2analesdepediatria.org+2

  13. Thyroid autoantibody testing (lab/pathological)
    Blood tests for antibodies, such as TSH-receptor blocking antibodies or anti-thyroid peroxidase, can show if maternal autoimmune disease has caused the baby’s hypothyroidism. This is particularly useful in transient forms.Bangladesh Journals Online+2DynaMed+2

  14. Urinary iodine excretion test (lab/pathological)
    Measuring iodine in the urine helps assess iodine intake. Low urinary iodine in mothers and babies in a region supports iodine deficiency as the main cause of endemic cretinism.Wikipedia+2ScienceDirect+2

  15. Auditory brainstem response (ABR) test (electrodiagnostic)
    ABR measures the brain’s electrical reaction to sound clicks. It is very useful in babies and children with congenital hypothyroidism to detect early sensorineural hearing loss related to the disease.PMC+2PubMed+2

  16. Pure-tone audiometry (electrodiagnostic)
    In older children, standard hearing tests using tones of different frequencies can measure how well they hear. Many children with poorly treated congenital hypothyroidism show hearing loss on these tests.ResearchGate+2ETJ+2

  17. Electrocardiogram (ECG) (electrodiagnostic)
    An ECG records the heart’s electrical activity. In severe hypothyroidism, it may show slow heart rate and other changes. While not specific, it helps assess the heart’s safety before and during treatment.NCBI+1

  18. Thyroid ultrasound (imaging test)
    Ultrasound uses sound waves to see the thyroid gland in the neck. It can show whether the gland is present, absent, small, or in an abnormal position, which helps identify the cause of congenital hypothyroidism.E-APEM+1

  19. Thyroid radionuclide scintigraphy (imaging test)
    A tiny amount of radioactive material (such as technetium-99m or iodine) is given, and a special camera shows where it is taken up by thyroid tissue. This scan can reveal ectopic thyroid, agenesis, or dyshormonogenesis.IJPediatrics+2analesdepediatria.org+2

  20. Bone age X-ray of knee or hand (imaging test)
    Simple X-rays of the knee or hand can show how far the bones have matured. In long-standing congenital hypothyroidism, bone age is often much younger than the child’s real age, confirming delayed growth.Orpha+2Grokipedia+2

Treatment Goals in Cretinism

The main goal of treatment is to replace the missing thyroid hormone as early, safely, and accurately as possible, so the baby’s brain and body can grow normally. Doctors use levothyroxine (T4) taken by mouth every day, usually starting at around 10–15 micrograms per kilogram per day in newborns, then adjusting the dose based on regular blood tests (TSH and free T4).Medscape+2d192ha6kdpe15x.cloudfront.net+2

Other important goals are to support development (movement, speech, learning, hearing, behavior) and to help the child and family cope with any disabilities that cannot be fully reversed. In areas where iodine deficiency is common, a huge part of treatment is really public-health prevention, especially iodized salt and iodine supplements for women before and during pregnancy.Wikipedia+2Clinical Gate+2


Non-Pharmacological Treatments

  1. Early newborn thyroid screening and rapid treatment
    The most powerful “non-drug” measure is a national newborn screening program. A drop of blood from the baby’s heel is tested for high TSH and low T4. If congenital hypothyroidism is confirmed, treatment starts immediately, often on the same day. This program itself is not a medicine, but it prevents brain damage by ensuring no baby stays hypothyroid for weeks or months. It is the main reason classical cretinism has almost disappeared in many countries.Medscape+2d192ha6kdpe15x.cloudfront.net+2

  2. Parent education and counseling
    Parents learn what thyroid hormone does, why daily treatment is lifelong, and why missing doses is risky. Education reduces fear and myths, helps them give medicine correctly, attend follow-up visits, and watch for symptoms of under- or over-treatment. Understanding the condition improves adherence and long-term outcomes and helps parents feel less guilty and more confident in caring for their child.

  3. Iodized salt and iodine-rich diet for family and future pregnancies
    For communities, iodized table salt and access to iodine-rich foods (fish, dairy, eggs) protect future babies from iodine deficiency. For women and girls, normal iodine intake before pregnancy is essential, because the fetus depends on the mother’s hormone in early brain development. This population-level nutrition measure is the classic way endemic cretinism has been eliminated in many regions.Wikipedia+2Clinical Gate+2

  4. Developmental stimulation programs (early intervention)
    Early intervention centers provide structured play, sensory games, and learning activities tailored to the child’s age and delays. Simple actions like talking, singing, reading picture books, and playing movement games help build brain connections that may have been slowed by early hormone deficiency. Starting these programs in infancy can significantly improve later IQ, language, and self-care skills.

  5. Physical therapy for posture, tone, and motor skills
    Some children have hypotonia (floppy muscles), clumsy movement, or spasticity. Physical therapists design exercises to improve strength, balance, and coordination. They may use stretching, guided play, and mobility training. The purpose is to reduce contractures, support walking and sitting, and allow the child to move more independently and safely in daily life.

  6. Occupational therapy for daily living skills
    Occupational therapists focus on tasks such as feeding, dressing, drawing, writing, and using toys. They adapt tools (special spoons, grips, seating), and train both child and parents. The goal is to build independence in self-care and school activities, reduce frustration, and make sure the child can participate in family and classroom life as much as possible.

  7. Speech and language therapy
    Children with cretinism may have delayed speech, unclear pronunciation, or deaf-mutism if the ears and auditory pathways were affected. Speech-language therapists use visual cues, sign language, picture cards, and oral exercises to improve communication. Early therapy can transform a non-verbal toddler into a child who can communicate basic needs and thoughts, reducing behavioral problems and social isolation.ScienceDirect+1

  8. Hearing assessment and hearing aids
    Formal hearing tests (audiometry, otoacoustic emissions) are important, because hearing loss may be silent but severely affect language development. If hearing loss is found, hearing aids or cochlear implants, plus auditory training, can be provided. The purpose is to give the child usable sound input as early as possible so that the brain regions for language do not fall behind.ScienceDirect+1

  9. Vision care and eye alignment therapy
    Some children have squint (strabismus) or vision problems. Regular eye checks and glasses, eye-patching, or vision therapy prevent permanent lazy eye and improve depth perception. Correcting vision helps learning, reading, and physical coordination and can make the child more confident and socially engaged.ScienceDirect+1

  10. Nutritional counseling and healthy growth monitoring
    Dietitians help plan balanced meals with enough energy, protein, vitamins, and minerals. They also teach about timing of levothyroxine (usually on an empty stomach, separate from iron or soy-rich feeds that reduce absorption). The aim is to support normal growth curves, prevent anemia and vitamin deficiencies, and avoid obesity, which can appear if calorie intake is high but activity is low.Wikipedia+2FDA Access Data+2

  11. Psychological support for child and family
    Chronic illness plus learning difficulties can affect mood and behavior. Psychologists or counselors can help families process guilt, stress, and stigma, and help children manage low self-esteem, anxiety, or bullying. Simple behavioral strategies and support groups can make a big difference in school success and emotional health.

  12. Special education and individualized learning plans
    Some children need a modified school program with smaller classes, extra time, or one-to-one support. Special education teachers break tasks into smaller steps and use visual aids and repetition. This approach helps the child achieve their personal best academically, even if they cannot follow a standard curriculum at the same speed as peers.

  13. Assistive communication devices
    For children with severe speech or hearing impairment, picture boards, symbol cards, or electronic speech devices can be used. These tools provide an alternative way to communicate wants, feelings, and questions. The purpose is to reduce frustration and help the child take part in decisions and social activities.

  14. Home routines for medication and appointments
    Simple non-drug strategies such as using alarms, pill boxes, wall charts, and shared calendars help families remember daily thyroid tablets and regular blood tests. Reliable routines keep hormone levels stable, which is the key to preventing regression or new problems.

  15. Community-based rehabilitation programs
    In low-resource or rural areas, village-level workers can provide basic physiotherapy exercises, caregiver training, and educational support. Community programs reduce travel burdens, encourage inclusion, and make sure families do not feel alone with the condition.

  16. Social and financial support services
    Some families need help with transportation, disability allowances, or school fees. Social workers can connect them to government or charity programs. This support reduces stress and lets caregivers focus on treatment and stimulation instead of only survival issues.

  17. Dental and oral health care
    Children with developmental delay and macroglossia (large tongue) may have drooling, mouth-breathing, or dental crowding. Regular dental care, fluoride, and oral-motor exercises lower the risk of caries, gum disease, and feeding problems, and improve comfort and appearance.

  18. Sleep hygiene and routine management
    A stable bedtime routine, quiet sleep environment, and good screen habits help children who have sleep problems due to restlessness, breathing issues, or behavior. Good sleep supports growth hormone release, learning, and behavior control during the day.

  19. Family training in early stimulation at home
    Caregivers are shown simple home activities—like naming objects, counting toys, singing, and practicing gross and fine motor skills. This turns daily life into therapy and greatly increases the number of “learning minutes” the child receives, especially where formal services are limited.

  20. Multidisciplinary care coordination
    Endocrinologists, pediatricians, neurologists, audiologists, therapists, teachers, and social workers need to work together. Having one main coordinator (often a pediatric endocrinology clinic) avoids conflicting advice, missed tests, or duplicated work, and gives the family a clear long-term plan.


Drug Treatments for Cretinism

In real life, only a small number of medicines are truly central for cretinism. Listing 20 different “core drugs” would be misleading. Below are the most important, evidence-based medicines used, with information drawn from FDA-approved prescribing information and expert guidelines.d192ha6kdpe15x.cloudfront.net+4FDA Access Data+4FDA Access Data+4

  1. Levothyroxine sodium oral tablet (T4)
    Levothyroxine is the standard and lifelong treatment for congenital hypothyroidism. It is a synthetic version of thyroxine (T4), identical to the natural hormone. Class: thyroid hormone (T4) replacement. It is usually given once daily on an empty stomach; newborns often start at 10–15 µg/kg/day, crushed and mixed with a small amount of milk or water. Purpose: normalize T4 and TSH quickly to protect brain and growth. Mechanism: T4 is converted to active T3 in tissues, regulating metabolism and brain development. Side effects if the dose is too high include fast heartbeat, sweating, irritability, poor weight gain, and sleep trouble; too low a dose causes fatigue, constipation, and slowed growth.d192ha6kdpe15x.cloudfront.net+3FDA Access Data+3FDA Access Data+3

  2. Levothyroxine oral solution / liquid formulations
    Some children, especially infants or those with feeding difficulties, may receive levothyroxine in liquid form, such as FDA-approved oral solutions. Class and mechanism are the same as tablets. The liquid is measured in micrograms and given once daily, usually 30–60 minutes before feeding. Purpose: improve dosing accuracy and ease of use when crushing tablets is not reliable. Side effects are identical to tablet forms and depend on whether the dose is too high or too low, not on the formulation.FDA Access Data+1

  3. Levothyroxine sodium injection (T4 IV)
    Intravenous levothyroxine is not routine in congenital hypothyroidism but may be used in life-threatening myxedema coma or when the gut cannot absorb tablets (e.g., severe illness, bowel surgery). Class: thyroid hormone replacement, injectable. Doses are calculated carefully in micrograms based on weight and severity, and given under intensive monitoring. Purpose: rapidly correct severe hypothyroidism when oral therapy is impossible. Mechanism and side effects are similar to oral levothyroxine, but overdose can cause arrhythmias or heart strain, so it is used only in hospital.FDA Access Data+2FDA Access Data+2

  4. Liothyronine sodium oral tablet (T3)
    Liothyronine is a synthetic T3 (the active form of thyroid hormone). Class: thyroid hormone (T3) replacement. It has a faster onset and shorter half-life than T4. It is rarely needed in children with congenital hypothyroidism, but may be used in special situations (for example, when rapid T3 replacement is desired in severe hypothyroidism). Adult starting doses are usually 5–25 mcg once daily, adjusted gradually; pediatric doses are much smaller and doctor-specific. Side effects include palpitations, tremor, anxiety, and bone loss if used at high or prolonged doses.Drugs.com+3FDA Access Data+3Mayo Clinic+3

  5. Liothyronine injection (T3 IV) – specialized use
    Injectable liothyronine may be used in intensive care for certain severe hypothyroid states or after thyroid surgery, but it is highly specialized and not routine for cretinism. Class: thyroid hormone (T3), injectable. Dosage is carefully calculated in micrograms and given by experienced clinicians. Purpose: provide rapid active hormone when quick metabolic stimulation is essential. Mechanism: directly supplies T3 to tissues. Risk of arrhythmias, chest pain, or high blood pressure means careful cardiac monitoring is required.Drugs.com+1

  6. Iodine or iodide preparations (for maternal or population deficiency)
    For endemic cretinism caused by iodine deficiency, the “drug” focus is often the mother, not the baby. Oral iodine capsules or iodized oil injections can be given to women of child-bearing age in severely deficient regions. Class: essential trace element (iodine). Doses vary (for example, 150–250 µg/day for pregnant women in many guidelines). Purpose: prevent maternal and fetal hypothyroidism by providing enough iodine to make thyroid hormones. Mechanism: iodine is used by the thyroid to synthesize T3 and T4. Overdose can paradoxically disturb thyroid function, so large doses must be medically supervised.Wikipedia+2Clinical Gate+2

  7. Iron supplements when there is iron-deficiency anemia
    Iron is not directly a thyroid drug, but iron-deficiency anemia is common in pregnancy and childhood and can worsen developmental outcomes. Class: hematinic (e.g., ferrous sulfate). Dosage and timing depend on weight and lab results. Purpose: correct anemia so the child’s brain and tissues receive enough oxygen. Mechanism: iron is needed for hemoglobin production. Because iron can interfere with levothyroxine absorption, it is usually given several hours apart from thyroid tablets. Side effects include stomach upset, dark stools, and constipation.FDA Access Data+1

  8. Vitamin D and calcium when there is deficiency or low bone density
    Long-term thyroid hormone imbalance, poor diet, or low sunlight can lead to weak bones. Vitamin D and calcium preparations are used when blood tests show deficiency. Class: vitamin / mineral supplements, sometimes considered drugs at higher doses. Dosages vary with age and lab results; they are often given once or twice daily. Purpose: support bone mineralization and prevent rickets or osteopenia. Mechanism: vitamin D improves calcium absorption, and calcium is a building block for bone. Over-supplementation can cause high blood calcium, nausea, or kidney stones, so monitoring is needed.


Dietary Molecular Supplements

These supplements are supportive, not a cure. Doses, especially in children, must be individualized by a doctor or dietitian.

  1. Iodine
    Iodine is the key molecule required to build thyroid hormones T3 and T4. In areas with adequate iodized salt, extra iodine is usually not needed, but in deficient regions, supervised supplements in women and older children may be recommended. Functional role: enables the thyroid to make hormones. Mechanism: iodine is taken up into the thyroid follicular cells and attached to tyrosine residues in thyroglobulin to form T3 and T4. In excess, iodine can trigger thyroid dysfunction, so “more” is not always better.Wikipedia+2Clinical Gate+2

  2. Selenium
    Selenium is a component of enzymes called deiodinases, which convert T4 into active T3 in tissues and protect the thyroid gland from oxidative damage. Functional role: supports healthy conversion and antioxidant defense. Mechanism: selenium-dependent enzymes remove iodine atoms from T4 to generate T3 and neutralize harmful reactive oxygen species. Usual doses are small (around 20–100 µg/day in adults); overdose can cause brittle hair and nails, stomach upset, or nerve problems.

  3. Zinc
    Zinc is important for many enzymes and transcription factors involved in growth, immunity, and hormone signaling. Functional role: contributes to normal growth and immune function, which may be slowed in congenital hypothyroidism. Mechanism: zinc helps stabilize DNA-binding proteins and supports cell division. Typical supplemental doses are modest (5–15 mg/day in children depending on age). Excess zinc can cause nausea, diarrhea, and copper deficiency.

  4. Iron (nutritional supplement)
    Beyond treating anemia, mild iron supplementation can be part of a nutrition plan in communities with low iron intake. Functional role: supports oxygen transport and energy metabolism in brain and muscle. Mechanism: iron is part of hemoglobin and many enzymes in mitochondria. Doses are calculated per kilogram in children; excess iron can be toxic, so tablets must be kept out of reach of children.

  5. Vitamin D
    Vitamin D supports bone health, muscle function, and immune regulation. Functional role: helps absorb and use calcium and phosphorus. Mechanism: vitamin D acts via nuclear receptors to regulate genes involved in mineral balance and immunity. Doses depend on age, sun exposure, and blood levels; long-term overdose can cause hypercalcemia, vomiting, and kidney problems.

  6. Omega-3 fatty acids (EPA/DHA)
    Omega-3 fats from fish oil or algae may support brain and eye development, especially in early childhood. Functional role: support neuronal membrane fluidity and anti-inflammatory pathways. Mechanism: they are incorporated into cell membranes and help control signaling molecules like prostaglandins. Typical pediatric doses are adjusted to weight; side effects are usually mild (fishy aftertaste, loose stools) but high doses can slightly increase bleeding tendency.

  7. Vitamin B12
    B12 is crucial for nerve myelination and red blood cell production. Functional role: supports cognitive development and prevents anemia. Mechanism: B12 acts as a cofactor in DNA synthesis and fatty acid metabolism needed for myelin. Oral doses vary widely; deficiency is more common in strict vegan diets. Very high doses are usually safe but may cause skin rash in rare cases.

  8. Folate (folic acid)
    Folate is needed for cell division and brain development, especially before and during pregnancy. Functional role: prevents neural tube defects and may support overall neurodevelopment. Mechanism: folate participates in one-carbon metabolism and DNA synthesis. Standard supplementation in women of child-bearing age is around 400 µg/day; too much can mask B12 deficiency, so balanced use is important.

  9. Probiotics
    Probiotics are live “good” bacteria used to support gut health. Functional role: may help digestion, immunity, and possibly absorption of nutrients needed for growth. Mechanism: they compete with harmful bacteria, produce beneficial metabolites, and interact with gut immune cells. Exact strains and doses vary; they are usually well tolerated but should be discussed with a doctor in very young or immunocompromised children.

  10. Antioxidant vitamins (A, C, E) in balanced doses
    These vitamins help protect cells, including thyroid tissue and brain cells, from oxidative stress. Functional role: support immune function, skin, and eye health. Mechanism: they neutralize free radicals before they damage lipids, proteins, or DNA. They are best obtained from a varied diet rich in fruits and vegetables; high-dose supplements can be harmful (for example, excess vitamin A can cause liver and bone toxicity).


Immunity-Boosting and Regenerative / Stem Cell–Related Approaches

There are no approved stem cell or gene-therapy drugs specifically for cretinism or congenital hypothyroidism yet. The items below describe general or experimental approaches, not standard treatments.Healthcord Cryogenics+4PMC+4endocrinology.org+4

  1. Routine childhood vaccines
    Vaccines (e.g., measles, polio, pneumococcal) are not “thyroid drugs”, but they strongly protect the immune system by preventing serious infections, which can be more dangerous in children with chronic conditions and developmental delay. They work by training the immune system to recognize germs using weakened or inactivated antigens. Following the national schedule is the safest and most evidence-based way to “boost” immunity.

  2. Balanced nutrition and micronutrients as immune support
    Instead of “magic boosters”, a well-balanced diet with adequate protein, vitamins, and minerals (including iron, zinc, and vitamin D) supports normal immune cell function and antibody production. This is a biological, not commercial, way to keep the immune system strong.

  3. Intravenous immunoglobulin (IVIG) in special immune disorders
    In rare cases where a child with congenital hypothyroidism also has a primary immune deficiency, IVIG may be used. It is a pooled antibody product from healthy donors. It acts by supplying ready-made antibodies to fight infections. It is given in hospital, by infusion, and is not specific to cretinism.

  4. Experimental thyroid regenerative therapy with stem cells
    Researchers are exploring ways to grow thyroid tissue from embryonic or induced pluripotent stem cells and transplant it into animals with hypothyroidism. In experimental models, these lab-grown thyroid organoids can produce hormone and restore normal levels. This could one day reduce or replace daily pills, but it is still in early research and not available as routine care.Healthcord Cryogenics+6PMC+6Nature+6

  5. Future gene-therapy concepts
    Scientists also imagine gene-therapy approaches that might correct genetic defects causing thyroid agenesis or dyshormonogenesis. These methods would use viral vectors or gene-editing systems to restore normal thyroid function at the DNA level. At present, this is theoretical or preclinical and carries many safety and ethical questions, so it is not offered to patients.

  6. Cautious use of “immune boosters” advertised online
    Many over-the-counter products claim to boost immunity or hormones, but few have strong evidence, and some may harm the thyroid or interact with levothyroxine. For a child with congenital hypothyroidism, “natural” does not always mean safe. Any such product should be checked with the treating doctor before use.


Surgeries Used in People with Cretinism

  1. Thyroid surgery for large goiter (rare in children now)
    In regions with long-standing iodine deficiency, some patients may develop very large goiters that cause breathing or swallowing problems. Thyroidectomy (partial or total removal of the thyroid) may be done to relieve pressure. After surgery, the person will definitely need lifelong thyroid hormone replacement, which they usually already need.

  2. Orthopedic surgery for severe contractures or deformities
    If cretinism was untreated for many years, spasticity, muscle imbalance, and poor growth can lead to joint contractures, hip dislocation, or spinal deformity. Orthopedic surgery may correct these problems, allowing better sitting, standing, or walking, and making care easier for families.

  3. Eye muscle surgery for severe squint (strabismus)
    When squint is large and cannot be corrected by glasses alone, eye muscle surgery can be used to realign the eyes. This is done under general anesthesia. The purpose is to improve appearance, binocular vision, and social interaction. It does not treat the underlying thyroid problem but helps overall quality of life.

  4. Ear surgery or cochlear implantation
    Children with profound deafness sometimes benefit from cochlear implants or other ear surgeries. These devices directly stimulate the auditory nerve, allowing perception of sound. Early implantation combined with speech therapy can transform communication abilities in deaf-mutism associated with endemic cretinism.

  5. Dental and maxillofacial surgery
    Severe malocclusion, jaw underdevelopment, or crowded teeth may require orthodontic and surgical correction in adolescence. These procedures are aimed at improving chewing, speech, breathing, and appearance and are handled by dental and maxillofacial specialists.


Prevention of Cretinism

  1. Use iodized salt at household and community level as recommended by health authorities.

  2. Ensure adequate iodine intake for girls and women before and during pregnancy and breastfeeding.

  3. Screen pregnant women for thyroid disease and treat hypothyroidism properly.

  4. Avoid unnecessary use of radioactive iodine or strong antithyroid drugs during pregnancy unless guided by a specialist.Healthline+3BYJU’S+3Clinical Gate+3

  5. Implement and maintain universal newborn screening for congenital hypothyroidism.Medscape+2d192ha6kdpe15x.cloudfront.net+2

  6. Educate communities about the importance of iodine and early treatment.

  7. Improve maternal nutrition overall (iron, folate, B12, protein) to support fetal brain development.

  8. Ensure good antenatal care, including regular check-ups and medication review.

  9. Protect children from chronic malnutrition and repeated infections, which worsen outcomes.

  10. Maintain strong public-health surveillance to detect and correct new iodine-deficient areas quickly.


When to See Doctors

Parents should contact a doctor immediately if a newborn screening test is abnormal or if a baby has signs like prolonged jaundice, poor feeding, constipation, cold skin, large tongue, hoarse cry, or an unusually sleepy, floppy appearance. These can be early warning signs of congenital hypothyroidism.Healthline+2Ada+2

Children already on treatment need urgent review if they show new or worsening symptoms such as fatigue, constipation, slowed growth, poor school performance, or regression in skills (suggesting under-treatment) or fast heartbeat, sweating, irritability, trouble sleeping, and unexpected weight loss (suggesting over-treatment). Routine follow-ups and blood tests are usually more frequent in the first year of life (every few weeks) and then gradually spaced out, but they should never be stopped without medical advice.Medscape+2d192ha6kdpe15x.cloudfront.net+2

Families should also seek help if they notice hearing or vision problems, seizures, or serious behavior issues, or if they struggle with giving medicine consistently. It is always better to ask early than to wait until problems become severe.


What to Eat and What to Avoid

  1. Eat: A balanced diet with adequate calories, protein, fruits, vegetables, and whole grains to support growth and brain development.

  2. Eat: Iodine-rich foods (where available), such as iodized salt, dairy products, eggs, and sea fish, within local dietary customs.Wikipedia+2Clinical Gate+2

  3. Eat: Foods rich in iron (meat, beans, lentils, leafy greens) and vitamin C (fruits, tomatoes) to prevent anemia.

  4. Eat: Healthy fats like those from fish, nuts, and seeds to support brain development.

  5. Eat: Foods rich in calcium and vitamin D (dairy, fortified foods, safe sunlight exposure) to maintain strong bones.

  6. Avoid: Very large amounts of uncooked goitrogenic foods such as raw cassava, certain millets, and large quantities of raw cabbage or kale, especially in severely iodine-deficient regions (normal cooked portions are usually safe in people on adequate iodine and levothyroxine).Wikipedia+1

  7. Avoid: Giving levothyroxine together with soy-based formula, iron, or calcium supplements; these can reduce absorption, so they should be separated by several hours according to the doctor’s advice.d192ha6kdpe15x.cloudfront.net+3Wikipedia+3FDA Access Data+3

  8. Avoid: High-sugar, low-nutrient junk food and sugary drinks, which can cause obesity and dental problems, especially in less active children.

  9. Avoid: Unregulated “thyroid booster” or weight-loss supplements, which may contain hidden thyroid hormones or iodine and disturb treatment.

  10. Avoid: Alcohol and smoking in the household, especially around pregnant women and children, as they harm overall health and development.


Frequently Asked Questions (FAQs)

  1. Is cretinism the same as congenital hypothyroidism?
    The word “cretinism” is an older term for severe congenital hypothyroidism, especially when it causes marked mental and physical delay. Today doctors prefer to say congenital hypothyroidism or congenital iodine deficiency syndrome, because “cretin” has become offensive in everyday speech.step2.medbullets.com+3Wikipedia+3PMC+3

  2. Can cretinism be cured?
    If hypothyroidism is found and treated in the first weeks of life, most babies develop normally and never show the classic features of cretinism. They still need lifelong thyroid hormone tablets, but they can grow, learn, and live like other children. If treatment is started very late, some damage cannot be fully reversed.Grokipedia+3PMC+3Medscape+3

  3. What is the main treatment?
    The main treatment is daily oral levothyroxine (T4) at a dose carefully adjusted for the child’s age, weight, and blood test results. No other drug is as important or as well proven for this condition.d192ha6kdpe15x.cloudfront.net+3FDA Access Data+3FDA Access Data+3

  4. How long must my child take thyroid hormone?
    Most children with congenital hypothyroidism need thyroid hormone for life. In some borderline or transient cases, doctors may test whether the child can stop medicine after a few years, but this should only be done under close supervision with repeated blood tests.Medscape+2d192ha6kdpe15x.cloudfront.net+2

  5. Will my child be able to go to a normal school?
    Many children who are diagnosed and treated early attend regular schools and perform well. Some may need extra help or a slower learning pace, especially if treatment started late. Early developmental support, speech therapy, and special education services can greatly improve school outcomes.

  6. Can cretinism be prevented?
    Yes. The combination of iodized salt, iodine supplements for women, and newborn screening has almost completely prevented new cases of classic endemic cretinism in many countries. In areas still lacking these programs, cretinism sadly remains a problem.Grokipedia+3Wikipedia+3Clinical Gate+3

  7. Is it safe to miss a few doses of levothyroxine?
    Occasional missed doses happen, but they should not become a habit. Repeatedly forgetting tablets can lead to low hormone levels, slower growth, tiredness, and learning problems. If a dose is forgotten, most doctors advise giving it when remembered the same day, or following their specific instructions at the next visit. Always ask your child’s doctor what to do in such situations.

  8. Can “natural thyroid” or herbal remedies replace levothyroxine?
    No. There is no reliable herbal or “natural” product that can safely and precisely replace thyroid hormone in babies and children. Desiccated thyroid extracts exist but are difficult to dose and are not standard for congenital hypothyroidism. Levothyroxine is the recommended, well-studied treatment.FDA Access Data+2FDA Access Data+2

  9. Does diet alone fix cretinism?
    Diet, including iodine, supports health, but diet alone cannot correct a missing or severely underactive thyroid gland. Hormone replacement is still needed. Good nutrition works together with medicine; it does not replace it.

  10. What happens if treatment is started late?
    If treatment begins months or years after birth, some physical and mental disabilities may be permanent. However, starting levothyroxine can still improve energy, growth, and comfort, and therapies can help the child reach the best possible level of function.OUP Academic+3PMC+3PMC+3

  11. Is cretinism genetic or due to diet?
    Both are possible. Endemic cretinism mainly results from severe iodine deficiency in a region, so it is environmental. Sporadic congenital hypothyroidism can be due to genetic defects in thyroid development or hormone production. In many cases, no single cause is found.PMC+3BYJU’S+3ScienceDirect+3

  12. Can a mother with hypothyroidism have a healthy baby?
    Yes—if her thyroid function is monitored and well controlled with appropriate medication before and during pregnancy. Good pre-pregnancy counseling, correct levothyroxine dosing, and enough iodine are essential to protect the baby’s brain development.BYJU’S+2Clinical Gate+2

  13. Does cretinism affect life expectancy?
    If diagnosed early and treated properly, life expectancy can be close to normal. In untreated or very late-treated cases with severe disability, complications such as infections, poor nutrition, and limited mobility can shorten life span. Regular medical care and supportive therapies help reduce these risks.PMC+2JSciMed Central+2

  14. Is “cretin” an acceptable word to use now?
    In everyday language, “cretin” is considered offensive and stigmatizing, so it should not be used for people. In medical writing, experts now prefer “congenital hypothyroidism” or “congenital iodine deficiency syndrome.” When writing for patients and families, it is kinder and more accurate to use these modern terms.Wikipedia+2PMC+2

  15. What is the most important thing families should remember?
    The single most important point is: daily thyroid hormone, given correctly and monitored regularly, is the foundation of treatment. Everything else—diet, therapy, school support—builds on that. With early diagnosis, good adherence, and supportive care, many children with congenital hypothyroidism grow up healthy and able to live full, productive lives.

Disclaimer: Each person’s journey is unique, treatment planlife stylefood habithormonal conditionimmune systemchronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: December o2 , 2025.

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