Format

Send to:

Choose Destination

Thyroid agenesis(CHNG2)

MedGen UID:
289647
Concept ID:
C1563716
Congenital Abnormality
Synonyms: CHNG2; Congenital Hypothyroidism, Nongoitrous 2; Thyroid Dysgenesis; Thyroid hypoplasia; Thyroid, ectopic
 
Gene (location): PAX8 (2q14.1)
OMIM®: 218700
HPO: HP:0008188

Definition

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism). [from GTR]

Additional descriptions

From OMIM
In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).  http://www.omim.org/entry/218700
From GHR
Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). 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). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.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, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.  https://ghr.nlm.nih.gov/condition/congenital-hypothyroidism

Clinical features

Congenital hypothyroidism
MedGen UID:
41344
Concept ID:
C0010308
Disease or Syndrome
Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). 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). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.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, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.
Goiter
MedGen UID:
42270
Concept ID:
C0018021
Finding
An enlargement of the thyroid gland.
Thyroid hypoplasia
MedGen UID:
57720
Concept ID:
C0151516
Disease or Syndrome
Developmental hypoplasia of the thyroid gland.
Ectopic thyroid
MedGen UID:
78591
Concept ID:
C0266283
Finding
Mislocalised thyroid gland.
Thyroid-stimulating hormone excess
MedGen UID:
108325
Concept ID:
C0586553
Finding
Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.
Thyroid agenesis
MedGen UID:
155447
Concept ID:
C0749420
Congenital Abnormality
The congenital absence of the thyroid gland.
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Pathologic Function
A slower than normal heart rate (in adults, slower than 60 beats per minute).
Growth delay
MedGen UID:
765377
Concept ID:
C3552463
Sign or Symptom
A deficiency or slowing down of growth pre- and postnatally.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION.
Thyroid-stimulating hormone excess
MedGen UID:
108325
Concept ID:
C0586553
Finding
Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
A finding indicating enlargement of the tongue.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching.
Hypothermia
MedGen UID:
5720
Concept ID:
C0020672
Finding
Abnormally low body temperature.
Hyperbilirubinemia
MedGen UID:
86321
Concept ID:
C0311468
Finding
Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice.
Hoarse cry
MedGen UID:
394791
Concept ID:
C2678303
Finding
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Large posterior fontanelle
MedGen UID:
340819
Concept ID:
C1855233
Finding
An enlargement of the posterior fontanelle relative to age-dependent norms.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
A finding indicating enlargement of the tongue.
Large posterior fontanelle
MedGen UID:
340819
Concept ID:
C1855233
Finding
An enlargement of the posterior fontanelle relative to age-dependent norms.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Xerosis
MedGen UID:
75479
Concept ID:
C0259817
Disease or Syndrome
Skin characterized by the lack of natural or normal moisture.
Congenital hypothyroidism
MedGen UID:
41344
Concept ID:
C0010308
Disease or Syndrome
Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). 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). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.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, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.
Goiter
MedGen UID:
42270
Concept ID:
C0018021
Finding
An enlargement of the thyroid gland.
Thyroid hypoplasia
MedGen UID:
57720
Concept ID:
C0151516
Disease or Syndrome
Developmental hypoplasia of the thyroid gland.
Ectopic thyroid
MedGen UID:
78591
Concept ID:
C0266283
Finding
Mislocalised thyroid gland.
Thyroid-stimulating hormone excess
MedGen UID:
108325
Concept ID:
C0586553
Finding
Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.
Thyroid agenesis
MedGen UID:
155447
Concept ID:
C0749420
Congenital Abnormality
The congenital absence of the thyroid gland.

Conditions with this feature

Pallister-Hall syndrome
MedGen UID:
120514
Concept ID:
C0265220
Disease or Syndrome
Pallister-Hall syndrome (referred to as PHS in this entry) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.

Recent clinical studies

Etiology

Tucker D, Woods G, Langham S, Biassoni L, Krywawych S, Hindmarsh P, Peters C
J Clin Endocrinol Metab 2016 May;101(5):2063-8. Epub 2016 Mar 18 doi: 10.1210/jc.2015-3080. PMID: 26990941
De Silva A, Jong I, McLean G, Bergman P, Rodda C, Brown J, Nandurkar D
J Med Imaging Radiat Oncol 2014 Aug;58(4):422-30. Epub 2014 Mar 20 doi: 10.1111/1754-9485.12166. PMID: 24649899
Monroy-Santoyo S, Ibarra-González I, Fernández-Lainez C, Greenawalt-Rodríguez S, Chacón-Rey J, Calzada-León R, Vela-Amieva M
Early Hum Dev 2012 Jan;88(1):61-4. Epub 2011 Aug 3 doi: 10.1016/j.earlhumdev.2011.07.009. PMID: 21816548
Bakker B, Vulsma T, de Randamie J, Achterhuis AM, Wiedijk B, Oosting H, Glas C, de Vijlder JJ
J Endocrinol 1999 Apr;161(1):115-20. PMID: 10194535
Morissette J, Dussault JH
Clin Invest Med 1986;9(3):198-200. PMID: 3757325

Diagnosis

Şimşek T, Cantürk NZ, Cantürk Z, Gürbüz Y
Surg Today 2015 Jun;45(6):787-92. Epub 2014 Aug 6 doi: 10.1007/s00595-014-0990-5. PMID: 25091455
Zhao S, Chen X, Zhu G
Ann Endocrinol (Paris) 2013 Feb;74(1):62-4. Epub 2013 Jan 18 doi: 10.1016/j.ando.2012.10.004. PMID: 23337015
Das A, Das SK, Sarkar A, Datta S
Indian J Chest Dis Allied Sci 2012 Apr-Jun;54(2):131-3. PMID: 22973785
McLean G, DeSilva A, Bergman P, Rodda C, Brown J, Jong I, Nandurkar D
J Ultrasound Med 2012 Aug;31(8):1281-3. PMID: 22837294
Monroy-Santoyo S, Ibarra-González I, Fernández-Lainez C, Greenawalt-Rodríguez S, Chacón-Rey J, Calzada-León R, Vela-Amieva M
Early Hum Dev 2012 Jan;88(1):61-4. Epub 2011 Aug 3 doi: 10.1016/j.earlhumdev.2011.07.009. PMID: 21816548

Therapy

De Silva A, Jong I, McLean G, Bergman P, Rodda C, Brown J, Nandurkar D
J Med Imaging Radiat Oncol 2014 Aug;58(4):422-30. Epub 2014 Mar 20 doi: 10.1111/1754-9485.12166. PMID: 24649899
Zhao S, Chen X, Zhu G
Ann Endocrinol (Paris) 2013 Feb;74(1):62-4. Epub 2013 Jan 18 doi: 10.1016/j.ando.2012.10.004. PMID: 23337015
Parks JS, Lin M, Grosse SD, Hinton CF, Drummond-Borg M, Borgfeld L, Sullivan KM
Pediatrics 2010 May;125 Suppl 2:S54-63. doi: 10.1542/peds.2009-1975F. PMID: 20435718
Nair PS, Sobhakumar S, Kailas L
Indian Pediatr 2010 Sep;47(9):757-60. Epub 2010 Jan 15 PMID: 20308767
Bakker B, Vulsma T, de Randamie J, Achterhuis AM, Wiedijk B, Oosting H, Glas C, de Vijlder JJ
J Endocrinol 1999 Apr;161(1):115-20. PMID: 10194535

Prognosis

Güven A
J Pediatr Endocrinol Metab 2017 Feb 1;30(2):159-165. doi: 10.1515/jpem-2016-0039. PMID: 28085672
Tucker D, Woods G, Langham S, Biassoni L, Krywawych S, Hindmarsh P, Peters C
J Clin Endocrinol Metab 2016 May;101(5):2063-8. Epub 2016 Mar 18 doi: 10.1210/jc.2015-3080. PMID: 26990941
Vincenzi M, Camilot M, Ferrarini E, Teofoli F, Venturi G, Gaudino R, Cavarzere P, De Marco G, Agretti P, Dimida A, Tonacchera M, Boner A, Antoniazzi F
BMC Endocr Disord 2014 Aug 22;14:69. doi: 10.1186/1472-6823-14-69. PMID: 25146893Free PMC Article
Monroy-Santoyo S, Ibarra-González I, Fernández-Lainez C, Greenawalt-Rodríguez S, Chacón-Rey J, Calzada-León R, Vela-Amieva M
Early Hum Dev 2012 Jan;88(1):61-4. Epub 2011 Aug 3 doi: 10.1016/j.earlhumdev.2011.07.009. PMID: 21816548
Parks JS, Lin M, Grosse SD, Hinton CF, Drummond-Borg M, Borgfeld L, Sullivan KM
Pediatrics 2010 May;125 Suppl 2:S54-63. doi: 10.1542/peds.2009-1975F. PMID: 20435718

Clinical prediction guides

Parks JS, Lin M, Grosse SD, Hinton CF, Drummond-Borg M, Borgfeld L, Sullivan KM
Pediatrics 2010 May;125 Suppl 2:S54-63. doi: 10.1542/peds.2009-1975F. PMID: 20435718
Stagi S, Azzari C, Bindi G, Galluzzi F, Nanni S, Salti R, Vierucci A
Clin Immunol 2005 Jul;116(1):94-8. doi: 10.1016/j.clim.2005.03.003. PMID: 15925836
Castanet M, Park SM, Smith A, Bost M, Léger J, Lyonnet S, Pelet A, Czernichow P, Chatterjee K, Polak M
Hum Mol Genet 2002 Aug 15;11(17):2051-9. PMID: 12165566
Bakker B, Vulsma T, de Randamie J, Achterhuis AM, Wiedijk B, Oosting H, Glas C, de Vijlder JJ
J Endocrinol 1999 Apr;161(1):115-20. PMID: 10194535
Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee VK
Nat Genet 1998 Aug;19(4):399-401. doi: 10.1038/1294. PMID: 9697705

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center