Congenital hypothyroidism: Difference between revisions
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{{Infobox medical condition | |||
| name = Congenital hypothyroidism | |||
| image = [[File:Jaundice_in_newborn.jpg|left|thumb|Jaundice in a newborn, a possible sign of congenital hypothyroidism]] | |||
| caption = Jaundice in a newborn, a possible sign of congenital hypothyroidism | |||
| field = [[Endocrinology]] | |||
| synonyms = Cretinism | |||
| symptoms = [[Jaundice]], [[poor feeding]], [[constipation]], [[hypotonia]], [[macroglossia]], [[umbilical hernia]], [[prolonged neonatal jaundice]] | |||
| complications = [[Intellectual disability]], [[growth failure]] | |||
| onset = [[Neonatal]] | |||
| duration = Lifelong | |||
| causes = [[Thyroid dysgenesis]], [[dyshormonogenesis]], [[iodine deficiency]] | |||
| risks = [[Family history]], [[maternal iodine deficiency]] | |||
| diagnosis = [[Newborn screening]], [[thyroid function tests]] | |||
| differential = [[Hypopituitarism]], [[Down syndrome]], [[hypothyroxinemia]] | |||
| prevention = [[Iodine supplementation]] during pregnancy | |||
| treatment = [[Levothyroxine]] | |||
| prognosis = Good with early treatment | |||
| frequency = 1 in 2,000 to 4,000 newborns | |||
}} | |||
'''Congenital hypothyroidism''' is a condition that affects newborns, characterized by an inadequate production of [[thyroid hormones]] immediately after birth. This condition can lead to physical and mental growth retardation if not detected and treated promptly. | '''Congenital hypothyroidism''' is a condition that affects newborns, characterized by an inadequate production of [[thyroid hormones]] immediately after birth. This condition can lead to physical and mental growth retardation if not detected and treated promptly. | ||
==Etiology== | ==Etiology== | ||
The most common cause of congenital hypothyroidism is thyroid dysgenesis, where the [[thyroid gland]] is either absent, ectopic, or severely underdeveloped. Other causes include dyshormonogenesis, a genetic defect leading to impaired thyroid hormone production, and iodine deficiency. | The most common cause of congenital hypothyroidism is thyroid dysgenesis, where the [[thyroid gland]] is either absent, ectopic, or severely underdeveloped. Other causes include dyshormonogenesis, a genetic defect leading to impaired thyroid hormone production, and iodine deficiency. | ||
==Clinical Presentation== | ==Clinical Presentation== | ||
Infants with congenital hypothyroidism often appear normal at birth. Symptoms may not be evident until a few weeks after birth and can include jaundice, constipation, poor muscle tone, sluggishness, and a protruding tongue. | Infants with congenital hypothyroidism often appear normal at birth. Symptoms may not be evident until a few weeks after birth and can include jaundice, constipation, poor muscle tone, sluggishness, and a protruding tongue. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of congenital hypothyroidism is usually made through newborn screening programs. This involves a heel prick blood test taken within the first few days of life. The test measures the levels of thyroid-stimulating hormone (TSH) and thyroxine (T4) in the infant's blood. | Diagnosis of congenital hypothyroidism is usually made through newborn screening programs. This involves a heel prick blood test taken within the first few days of life. The test measures the levels of thyroid-stimulating hormone (TSH) and thyroxine (T4) in the infant's blood. | ||
==Treatment== | ==Treatment== | ||
The primary treatment for congenital hypothyroidism is replacement therapy with levothyroxine. This medication is given orally and the dose is adjusted based on regular blood tests to monitor TSH and T4 levels. | The primary treatment for congenital hypothyroidism is replacement therapy with levothyroxine. This medication is given orally and the dose is adjusted based on regular blood tests to monitor TSH and T4 levels. | ||
==Prognosis== | ==Prognosis== | ||
With early diagnosis and appropriate treatment, children with congenital hypothyroidism can lead normal lives. However, if left untreated, the condition can lead to severe intellectual disability and growth failure. | With early diagnosis and appropriate treatment, children with congenital hypothyroidism can lead normal lives. However, if left untreated, the condition can lead to severe intellectual disability and growth failure. | ||
==Gallery== | |||
<gallery> | |||
File:CDpic3.png|Congenital hypothyroidism | |||
File:CDpic1.png|Congenital hypothyroidism | |||
File:CDpic2.png|Congenital hypothyroidism | |||
File:Cretinnen_aus_Steiermark,_1819_gez._Loder,_gest._Leopold_Müller.jpg|Cretinism in Styria, 1819 | |||
</gallery> | |||
==See Also== | ==See Also== | ||
* [[Thyroid]] | * [[Thyroid]] | ||
| Line 21: | Line 42: | ||
* [[Thyroid-stimulating hormone]] | * [[Thyroid-stimulating hormone]] | ||
* [[Levothyroxine]] | * [[Levothyroxine]] | ||
[[Category:Endocrine diseases]] | [[Category:Endocrine diseases]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
| Line 27: | Line 47: | ||
{{Endocrine-disease-stub}} | {{Endocrine-disease-stub}} | ||
{{Pediatrics-stub}} | {{Pediatrics-stub}} | ||
Revision as of 02:31, 5 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Congenital hypothyroidism | |
|---|---|
 | |
| Synonyms | Cretinism |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Jaundice, poor feeding, constipation, hypotonia, macroglossia, umbilical hernia, prolonged neonatal jaundice |
| Complications | Intellectual disability, growth failure |
| Onset | Neonatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Thyroid dysgenesis, dyshormonogenesis, iodine deficiency |
| Risks | Family history, maternal iodine deficiency |
| Diagnosis | Newborn screening, thyroid function tests |
| Differential diagnosis | Hypopituitarism, Down syndrome, hypothyroxinemia |
| Prevention | Iodine supplementation during pregnancy |
| Treatment | Levothyroxine |
| Medication | N/A |
| Prognosis | Good with early treatment |
| Frequency | 1 in 2,000 to 4,000 newborns |
| Deaths | N/A |
Congenital hypothyroidism is a condition that affects newborns, characterized by an inadequate production of thyroid hormones immediately after birth. This condition can lead to physical and mental growth retardation if not detected and treated promptly.
Etiology
The most common cause of congenital hypothyroidism is thyroid dysgenesis, where the thyroid gland is either absent, ectopic, or severely underdeveloped. Other causes include dyshormonogenesis, a genetic defect leading to impaired thyroid hormone production, and iodine deficiency.
Clinical Presentation
Infants with congenital hypothyroidism often appear normal at birth. Symptoms may not be evident until a few weeks after birth and can include jaundice, constipation, poor muscle tone, sluggishness, and a protruding tongue.
Diagnosis
Diagnosis of congenital hypothyroidism is usually made through newborn screening programs. This involves a heel prick blood test taken within the first few days of life. The test measures the levels of thyroid-stimulating hormone (TSH) and thyroxine (T4) in the infant's blood.
Treatment
The primary treatment for congenital hypothyroidism is replacement therapy with levothyroxine. This medication is given orally and the dose is adjusted based on regular blood tests to monitor TSH and T4 levels.
Prognosis
With early diagnosis and appropriate treatment, children with congenital hypothyroidism can lead normal lives. However, if left untreated, the condition can lead to severe intellectual disability and growth failure.
Gallery
-
Congenital hypothyroidism -
Congenital hypothyroidism -
Congenital hypothyroidism -
Cretinism in Styria, 1819
See Also
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