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Hypothyroidism, congenital, nongoitrous, 5(CHNG5)

MedGen UID:
388687
Concept ID:
C2673630
Disease or Syndrome
Synonym: CHNG5
 
Gene (location): NKX2-5 (5q35.1)
 
Monarch Initiative: MONDO:0009154
OMIM®: 225250

Definition

Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene. [from MONDO]

Clinical features

From HPO
Patent foramen ovale
MedGen UID:
8891
Concept ID:
C0016522
Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Intellectual disability, progressive
MedGen UID:
337397
Concept ID:
C1846149
Mental or Behavioral Dysfunction
The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
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.\n\nSigns 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.\n\nCongenital 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.\n\nCongenital 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.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.
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
Congenital Abnormality
Mislocalised thyroid gland.
Elevated circulating thyroid-stimulating hormone concentration
MedGen UID:
108325
Concept ID:
C0586553
Finding
Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.
Thyroid agenesis
MedGen UID:
155447
Concept ID:
C0749420
Congenital Abnormality
The congenital absence of the thyroid gland.
Decreased circulating free T3
MedGen UID:
1687899
Concept ID:
C5139195
Finding
A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.
Decreased circulating free T4 concentration
MedGen UID:
1743550
Concept ID:
C5421592
Finding
A reduced concentration of free thyroxine (fT4) in the blood circulation.

Recent clinical studies

Etiology

Bagattini B, Cosmo CD, Montanelli L, Piaggi P, Ciampi M, Agretti P, Marco GD, Vitti P, Tonacchera M
Eur J Endocrinol 2014 Nov;171(5):615-21. doi: 10.1530/EJE-14-0621. PMID: 25305309
Desai MP
Indian J Pediatr 1997 Jan-Feb;64(1):11-20. doi: 10.1007/BF02795771. PMID: 10771808
Gaitan E, Cooksey RC, Meydrech EF, Legan J, Gaitan GS, Astudillo J, Guzman R, Guzman N, Medina P
J Clin Endocrinol Metab 1989 Aug;69(2):359-63. doi: 10.1210/jcem-69-2-359. PMID: 2753978

Diagnosis

Li Y, Sun J, Jiao Y, Li N, Zhao W
J Clin Endocrinol Metab 2024 Feb 20;109(3):691-700. doi: 10.1210/clinem/dgad607. PMID: 37831130
Djemli A, Van Vliet G, Delvin EE
Clin Biochem 2006 May;39(5):511-8. Epub 2006 Apr 20 doi: 10.1016/j.clinbiochem.2006.03.015. PMID: 16730255
Desai MP
Indian J Pediatr 1997 Jan-Feb;64(1):11-20. doi: 10.1007/BF02795771. PMID: 10771808
Connors MH, Styne DM
Pediatrics 1986 Aug;78(2):287-90. PMID: 2874542

Therapy

Bagattini B, Cosmo CD, Montanelli L, Piaggi P, Ciampi M, Agretti P, Marco GD, Vitti P, Tonacchera M
Eur J Endocrinol 2014 Nov;171(5):615-21. doi: 10.1530/EJE-14-0621. PMID: 25305309
Gaitan E, Cooksey RC, Meydrech EF, Legan J, Gaitan GS, Astudillo J, Guzman R, Guzman N, Medina P
J Clin Endocrinol Metab 1989 Aug;69(2):359-63. doi: 10.1210/jcem-69-2-359. PMID: 2753978
Connors MH, Styne DM
Pediatrics 1986 Aug;78(2):287-90. PMID: 2874542

Prognosis

Cangul H, Aycan Z, Saglam H, Forman JR, Cetinkaya S, Tarim O, Bober E, Cesur Y, Kurtoglu S, Darendeliler F, Bas V, Eren E, Demir K, Kiraz A, Aydin BK, Karthikeyan A, Kendall M, Boelaert K, Shaw NJ, Kirk J, Högler W, Barrett TG, Maher ER
J Pediatr Endocrinol Metab 2012;25(5-6):419-26. doi: 10.1515/jpem-2012-0053. PMID: 22876533
Cangul H, Morgan NV, Forman JR, Saglam H, Aycan Z, Yakut T, Gulten T, Tarim O, Bober E, Cesur Y, Kirby GA, Pasha S, Karkucak M, Eren E, Cetinkaya S, Bas V, Demir K, Yuca SA, Meyer E, Kendall M, Hogler W, Barrett TG, Maher ER
Clin Endocrinol (Oxf) 2010 Nov;73(5):671-7. doi: 10.1111/j.1365-2265.2010.03849.x. PMID: 20718767
Desai MP
Indian J Pediatr 1997 Jan-Feb;64(1):11-20. doi: 10.1007/BF02795771. PMID: 10771808
Connors MH, Styne DM
Pediatrics 1986 Aug;78(2):287-90. PMID: 2874542

Clinical prediction guides

Narumi S, Nagasaki K, Kiriya M, Uehara E, Akiba K, Tanase-Nakao K, Shimura K, Abe K, Sugisawa C, Ishii T, Miyako K, Hasegawa Y, Maruo Y, Muroya K, Watanabe N, Nishihara E, Ito Y, Kogai T, Kameyama K, Nakabayashi K, Hata K, Fukami M, Shima H, Kikuchi A, Takayama J, Tamiya G, Hasegawa T
Nat Genet 2024 May;56(5):869-876. Epub 2024 May 7 doi: 10.1038/s41588-024-01735-5. PMID: 38714868Free PMC Article
Cangul H, Aycan Z, Saglam H, Forman JR, Cetinkaya S, Tarim O, Bober E, Cesur Y, Kurtoglu S, Darendeliler F, Bas V, Eren E, Demir K, Kiraz A, Aydin BK, Karthikeyan A, Kendall M, Boelaert K, Shaw NJ, Kirk J, Högler W, Barrett TG, Maher ER
J Pediatr Endocrinol Metab 2012;25(5-6):419-26. doi: 10.1515/jpem-2012-0053. PMID: 22876533
Cangul H, Morgan NV, Forman JR, Saglam H, Aycan Z, Yakut T, Gulten T, Tarim O, Bober E, Cesur Y, Kirby GA, Pasha S, Karkucak M, Eren E, Cetinkaya S, Bas V, Demir K, Yuca SA, Meyer E, Kendall M, Hogler W, Barrett TG, Maher ER
Clin Endocrinol (Oxf) 2010 Nov;73(5):671-7. doi: 10.1111/j.1365-2265.2010.03849.x. PMID: 20718767
Djemli A, Van Vliet G, Delvin EE
Clin Biochem 2006 May;39(5):511-8. Epub 2006 Apr 20 doi: 10.1016/j.clinbiochem.2006.03.015. PMID: 16730255
Chiovato L, Vitti P, Bendinelli G, Santini F, Fiore E, Tonacchera M, Mammoli C, Capaccioli A, Venturi S, Pretell E
J Clin Endocrinol Metab 1995 May;80(5):1509-14. doi: 10.1210/jcem.80.5.7744994. PMID: 7744994

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