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Congenital
hypothyroidism
The Thyroid gland
 The thyroid is a butterfly-shaped organ located at the base of the neck,
just below the larynx.
 It places a crucial role in regulating the metabolism, energy production
and overall growth and development.
 The gland produces hormones such as thyroxine and triiodothyronine,
which influences almost every cell in the body.
Functions of the Thyroid Hormones
 Thyroid hormones regulate the body’s metabolic rate and how the body
uses energy.
 The also play significant roles in heart function, digestive health and muscle
control.
 Proper levels of thyroid hormones are essential for maintain mental health,
mood stability and cognitive function.
Introduction to Congenital
Hypothyroidism
 Congenital hypothyroidism is a condition present at birth, characterized by an
underactive thyroid gland.
 This condition can lead to significant developmental delays and intellectual
diaablilities, if not diagnosed and treated early.
 It is one of the common endocrine disorders in newborn, affecting 1 in 2000 to 4000
live births.
Causes of Congenital
hypoparathyroidism
 The primary causes include thyroid gland dysgenesis, which involves abnormal
development of the thyroid gland.
 Genetic mutation can also play a role, affecting the synthesis of thyroid
hormone.
 In some cases, maternal factor such as iodine deficiency or exposure to certain
medication during pregnancy can contribute to the condition.
Symptoms and Diagnosis
 Symptoms of Congenital hypothyroidism may include poor feeding,
lethargy and developmental delays.
 Other signs include a hoarse cry, dry skin and swollen abdomen, which
might be observed in affected infants.
 Diagnosis is typically made through newborn screening tests that measures
thyroid hormones levels within in the first week of life.
Treatnebt Options
 The standard treatment for congenital hypothyroidism involves daily
administration of synthetic thyroid hormone, levothyroxine.
 Early diagnosis and treatment are crucial for normal growth and cognitive
development in affected children.
 Regular monitoring of thyroid hormone level is essential to ensure that the
treatment is effective and appropriately adjusted.
Long Term Outlook.
 With early diagnosis and appropriate treatment, most children with
Congenital hypothyroidism can lead a health and normal life.
 Regular follow up appointments are important to monitor development
and adjust medication doses as the child grows.
 Without treatment , the condition can result in severe intellectual disability
and other health complication.
Conclusion and Importance of
Screening
 Congenital hypothyroidism is a preventable cause of intellectual disability
when diagnosed early.
 Universal newborn screening programs have significantly improved early
detection rate.
 Awareness and education about this condition can help ensure timely
diagnosis and treatment for affecting infants.
References
 American Thyroid Association.(2023). Congenital hypothyroidism
 NationaL Institute of Child Health and
 Kearns, M.A, & Liptak, G,S (2023) Early diagnosis and treatment of
Congenital Hypothyroudism

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A clear view on Congenital hypothyroidism.pptx

  • 2. The Thyroid gland  The thyroid is a butterfly-shaped organ located at the base of the neck, just below the larynx.  It places a crucial role in regulating the metabolism, energy production and overall growth and development.  The gland produces hormones such as thyroxine and triiodothyronine, which influences almost every cell in the body.
  • 3. Functions of the Thyroid Hormones  Thyroid hormones regulate the body’s metabolic rate and how the body uses energy.  The also play significant roles in heart function, digestive health and muscle control.  Proper levels of thyroid hormones are essential for maintain mental health, mood stability and cognitive function.
  • 4. Introduction to Congenital Hypothyroidism  Congenital hypothyroidism is a condition present at birth, characterized by an underactive thyroid gland.  This condition can lead to significant developmental delays and intellectual diaablilities, if not diagnosed and treated early.  It is one of the common endocrine disorders in newborn, affecting 1 in 2000 to 4000 live births.
  • 5. Causes of Congenital hypoparathyroidism  The primary causes include thyroid gland dysgenesis, which involves abnormal development of the thyroid gland.  Genetic mutation can also play a role, affecting the synthesis of thyroid hormone.  In some cases, maternal factor such as iodine deficiency or exposure to certain medication during pregnancy can contribute to the condition.
  • 6. Symptoms and Diagnosis  Symptoms of Congenital hypothyroidism may include poor feeding, lethargy and developmental delays.  Other signs include a hoarse cry, dry skin and swollen abdomen, which might be observed in affected infants.  Diagnosis is typically made through newborn screening tests that measures thyroid hormones levels within in the first week of life.
  • 7. Treatnebt Options  The standard treatment for congenital hypothyroidism involves daily administration of synthetic thyroid hormone, levothyroxine.  Early diagnosis and treatment are crucial for normal growth and cognitive development in affected children.  Regular monitoring of thyroid hormone level is essential to ensure that the treatment is effective and appropriately adjusted.
  • 8. Long Term Outlook.  With early diagnosis and appropriate treatment, most children with Congenital hypothyroidism can lead a health and normal life.  Regular follow up appointments are important to monitor development and adjust medication doses as the child grows.  Without treatment , the condition can result in severe intellectual disability and other health complication.
  • 9. Conclusion and Importance of Screening  Congenital hypothyroidism is a preventable cause of intellectual disability when diagnosed early.  Universal newborn screening programs have significantly improved early detection rate.  Awareness and education about this condition can help ensure timely diagnosis and treatment for affecting infants.
  • 10. References  American Thyroid Association.(2023). Congenital hypothyroidism  NationaL Institute of Child Health and  Kearns, M.A, & Liptak, G,S (2023) Early diagnosis and treatment of Congenital Hypothyroudism