Congenital Hypothyroidism

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Annotated Information

Classification and Resources

ID 100
ICD-10
ICD-9-CM ICD9CM:243;
OMIM OMIM:218700;OMIM:225250;OMIM:274400;OMIM:274500;OMIM:274900;OMIM:275100;OMIM:275200;OMIM:607200;OMIM:609893;OMIM:614450;
SNOMED-CT SNOMEDCT_2010_1_31:154660000;SNOMEDCT_2010_1_31:154661001;SNOMEDCT_2010_1_31:190268003;SNOMEDCT_2010_1_31:190273009;SNOMEDCT_2010_1_31:190312009;SNOMEDCT_2010_1_31:217710005;SNOMEDCT_2010_1_31:237563007;SNOMEDCT_2010_1_31:267376007;SNOMEDCT_2010_1_31:267465007;SNOMEDCT_2010_1_31:3614006;SNOMEDCT_2010_1_31:75065003;
Orphanet
MeSH MSH:D003409;
DO

Defination

Congenital hypothyroidism (CH) or cretinism is a condition of thyroid hormone deficiency present at birth Approximately in newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability Treatment consists of a daily dose of thyroid hormone (thyroxine) by mouth Because the treatment is simple, effective, and inexpensive, nearly all of the developed world practices newborn screening to detect and treat congenital hypothyroidism in the first weeks of life~

Synonyms

cretinism  ;

Etiology

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Diagnosis

In the developed world, nearly all cases of congenital hypothyroidism are detected by the newborn screening program These are based on measurement of TSH or thyroxine (T) on the second or third day of life( Heel prick)~If the TSH is high, or the T low, the infant's doctor and parents are called and a referral to a pediatric endocrinologist is recommended to confirm the diagnosis and initiate treatment Often a technetium (Tc-m pertechnetate) thyroid scan is performed to detect a structurally abnormal gland A radioactive iodine (RAIU) exam will help differentiate congenital absence or a defect in organification (a process necessary to make thyroid hormone)~

Symptoms

In the developed world, nearly all cases of congenital hypothyroidism are detected by the newborn screening program These are based on measurement of TSH or thyroxine (T) on the second or third day of life( Heel prick)~If the TSH is high, or the T low, the infant's doctor and parents are called and a referral to a pediatric endocrinologist is recommended to confirm the diagnosis and initiate treatment Often a technetium (Tc-m pertechnetate) thyroid scan is performed to detect a structurally abnormal gland A radioactive iodine (RAIU) exam will help differentiate congenital absence or a defect in organification (a process necessary to make thyroid hormone)~

Treatment

Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as a problem: excessive sleeping, reduced interest in nursing, poor muscle tone, low or hoarse cry, infrequent bowel movements, exaggerated jaundice, and low body temperature If fetal deficiency was severe because of complete absence (athyreosis) of the gland, physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)~In the era before newborn screening, less than half of cases of severe hypothyroidism were recognized in the first month of life As the months proceeded, these infants would grow poorly and be delayed in their development By several years of age, they would display the recognizable facial and body features of cretinism Persistence of severe, untreated hypothyroidism resulted in severe mental impairment, with an IQ below in the majority Most of these children eventually ended up in institutional care~~ month old infant with untreated CH; picture demonstrates hypotonic posture, myxedematous facies, macroglossia, and umbilical herniaAdmin (talk)Close up of face, showing myxedematous facies, macroglossia, and skin mottlingAdmin (talk)Close up showing abdominal distension and umbilical hernia~~

Labs working on this disease

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References

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