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1.

Congenital hypothyroidism

Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, abnormally located, or severely reduced in size (hypoplastic). In the remaining cases, a normal-sized or enlarged thyroid gland is present, but production of thyroid hormones is decreased or absent. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. In the United States and many other countries, all newborns are tested for congenital hypothyroidism. If treatment begins in the first month after birth, infants usually develop normally.
[from GHR]

MedGen UID:
41344
Concept ID:
C0010308
Congenital Abnormality
2.

Thyroxine

A hormone synthesized and secreted by the thyroid gland containing four iodine atoms and is converted to triiodothyronine (T3) in the body, influencing metabolism and organ function. Check for "http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=528273&idtype=1" active clinical trials or "http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=528273&idtype=1&closed=1" closed clinical trials using this agent. ("http://nciterms.nci.nih.gov:80/NCIBrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C2302" NCI Thesaurus) [from PDQ]

MedGen UID:
11815
Concept ID:
C0040165
Pharmacologic Substance
3.

Hypothyroidism

A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. [from MeSH]

MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
4.

Congenital hypothyroidism

Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth. [from ORDO]

MedGen UID:
832726
Concept ID:
CN227539
Congenital Abnormality
5.

Congenital hypothyroidism

A type of hypothyroidism with congenital onset. [from HPO]

MedGen UID:
504626
Concept ID:
CN000797
Finding
6.

Error occurred: cannot get document summary

ID:
490072

7.

Error occurred: cannot get document summary

ID:
490071

8.

Hypothyroidism, congenital, nongoitrous, 1

Resistance to thyroid-stimulating hormone (TSH; see 188540), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous Hypothyroidism CHNG2 (218700) is caused by mutation in the PAX8 gene (167415) on chromosome 2q12-q14; CHNG3 (609893) maps to a locus on chromosome 15q25.3; CHNG4 (275100) is caused by mutation in the TSHB gene (188540) on chromosome 1p13; CHNG5 (225250) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q34; and CHNG6 (614450) is caused by mutation in the THRA gene (190120) on chromosome 17q21.1. [from OMIM]

MedGen UID:
441873
Concept ID:
CN074268
Disease or Syndrome
9.

Hypothyroidism

MedGen UID:
413085
Concept ID:
C2750951
Finding
10.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome

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