Presentation
The first child was found to have a serum TSH of 565 mU/L and had a negative thyroid scan when presented for neonatal screening. [ncbi.nlm.nih.gov]
The present case is possibly an example of switching of TBAb to TSAb postpartum. [thetrp.net]
Entire Body System
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Transient Hypothyroidism
Including all cases detected on the first and second routine NBS test, we found that 32 of 109 (29.4%) had transient hypothyroidism. [karger.com]
All preterm babies with permanent or transient hypothyroidism were detected by the first TSH cut-off of 6 mU/L. Only one infant with a birth weight CONCLUSIONS: The incidence of permanent CHT in preterm infants is similar to term infants. [ncbi.nlm.nih.gov]
DEFINITIONS OF TRANSIENT HYPOTHYROIDISM The definition of transient hypothyroidism in the medical literature is variable. [pediatrics.aappublications.org]
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Weight Gain
Evidence summary Feeding difficulties, inadequate weight gain, and unusual physical exam findings may lead providers to assess thyroid function in newborns. [mdedge.com]
Some symptoms and signs of hypothyroidism in older children and adolescents are similar to those of adults (eg, weight gain; fatigue; constipation; coarse, dry hair; sallow, cool, or mottled coarse skin—see Hypothyroidism : Symptoms and Signs ). [msdmanuals.com]
Symptoms and signs include the following: Decreased activity Large anterior fontanelle Poor feeding and weight gain Small stature or poor growth Jaundice Decreased stooling or constipation Hypotonia Hoarse cry Often, affected infants are described as [emedicine.medscape.com]
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Myxedema
Clinical symptoms include severe mental retardation, impaired skeletal development, short stature, and myxedema. A deficiency of thyroid hormone present at birth. [icd10data.com]
TG and TPO antibodies occur commonly in patients of Hashimoto’s thyroiditis and myxedema [ 4 ]. [alliedacademies.org]
Signs include the following: Coarse facial features Macroglossia Large fontanelles Umbilical hernia Mottled, cool, and dry skin Developmental delay Pallor Myxedema Goiter Anemia may occur, due to decreased oxygen carrying requirement. [emedicine.medscape.com]
Gastrointestinal
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Failure to Thrive
[…] to thrive Illustration by Emily Roberts, Verywell Causes There are two main forms of congenital hypothyroidism: permanent congenital hypothyroidism and transient congenital hypothyroidism. [verywell.com]
Jaw & Teeth
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Macroglossia
Most of these children eventually ended up in institutional care. 3 month old infant with untreated CH; picture demonstrates hypotonic posture, myxedematous facies, macroglossia, and umbilical hernia Close up of face, showing myxedematous facies, macroglossia [en.wikipedia.org]
Symptoms Feeding difficulties Somnolence Lethargy Low frequency of crying Constipation Signs Large fontanelles Myxoedema - with coarse features and a large head and oedema of the genitalia and extremities Nasal obstruction Macroglossia Low temperature [patient.info]
[…] and hypothyroidism remains undiagnosed or untreated, it usually slows CNS development moderately to severely and may be accompanied by low muscle tone, sensorineural hearing loss, prolonged hyperbilirubinemia, umbilical hernia, respiratory distress, macroglossia [msdmanuals.com]
Signs include the following: Coarse facial features Macroglossia Large fontanelles Umbilical hernia Mottled, cool, and dry skin Developmental delay Pallor Myxedema Goiter Anemia may occur, due to decreased oxygen carrying requirement. [emedicine.medscape.com]
Examination may show macroglossia, cold or mottled skin, hypothermia, edema, wide fontanel, open sutures, flat nasal bridge, protuberant abdomen, umbilical hernia, delayed reflexes, and hypotonia. Presence of goiter indicates DH. [dovepress.com]
Psychiatrical
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Suggestibility
Previous reports suggest that biallelic mutations of DUOX2 cause permanent congenital hypothyroidism and that monoallelic mutations cause transient congenital hypothyroidism. [ncbi.nlm.nih.gov]
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Withdrawn
All infants were treated with thyroxine, which was subsequently withdrawn from three. Following thyroxine withdrawal, one infant resumed normal thyroid function and two developed compensated hypothyroidism. [ncbi.nlm.nih.gov]
Urogenital
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Phenylketonuria
Screeing for phenylketonuria and congenital hypothyroidism in 5.8 million neonates in China. Clin. J. Prev. Med., 38 (2):99–101. Google Scholar Hrytsiuk, I., Gilbert, R., Logan, S., Pindoria, S., Brook, C.G., 2002. [link.springer.com]
This is part of the UK Newborn Screening Programme (the blood is also analysed for phenylketonuria, cystic fibrosis and sickle cell disease). [ 4, 5 ] A high TSH and low T4 confirm the diagnosis. [ 6 ] Thyroglobulin levels can also be measured - usually [patient.info]
[…] amount of blood is placed on a filter type paper that is tested for an array of tests depending on the errors in metabolism endemic to a particular area and some standard tests like thyroid function, hemoglobinopathies like sickle cell, galactosemia and phenylketonuria [quizlet.com]
Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program. Cad Saude Publica. 2012;28(9):1623–1631. 10. Skordis N, Toumba M, Savva SC, et al. [dovepress.com]
Workup
Thyroid imaging either by ultrasound or radioisotope scan was not included in the scope of diagnostic workup in Oregon, either during the newborn period or at re-evaluation after 3 years of age. [karger.com]
[…] lateral radiograph of the knee may be obtained to look for the distal femoral epiphysis; this ossification center appears at about 36 weeks' gestation, and its absence in a term or postterm infant indicates prenatal effects of hypothyroidism. [16] See Workup [emedicine.medscape.com]
Serum
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Abnormal Thyroid Function Test
Children with a normal thyroid ultrasound result but abnormal thyroid-function tests had a perchlorate-discharge test. Children with normal results had repeat thyroid-function tests 4 and 6 months later. [pediatrics.aappublications.org]
Treatment
However, a certain number of cases were never trialed off treatment and so remained classified as indeterminate. [karger.com]
So it is possible for CH children to stop taking medicine if their laboratory findings and physical development are all normal after regular treatment and 2-3 years of follow-up. [ncbi.nlm.nih.gov]
Prognosis
OBJECTIVE: To study the clinical therapy and prognosis in children with transient congenital hypothyroidism (CH). METHODS: Fifty-seven children with CH diagnosed after neonatal screening were treated with low-dosage levothyroxine (L-T4). [ncbi.nlm.nih.gov]
Long term prognosis Hi, my daughter was dx with congenital Hypothyroidism. I was told in the begining she would "grow out, but then I was told.probably not. We had to adjust her medication 3... [circleofmoms.com]
Yang Ru-lai (杨茹莱) Zhu Zhi-wei (竺智伟) Zhou Xue-lian (周雪莲) Zhao Zheng-yan (赵正言) Article First Online: 26 March 2006 Abstract Objective: To study the clinical therapy and prognosis in children with transient congenital hypothyroidism (CH). [link.springer.com]
A Word From Verywell If you have a child born with congenital hypothyroidism, you can expect a good prognosis with normal growth and development if treatment is initiated early. [verywell.com]
Prognosis If CH is detected early in infants and treatment begun, normal development of mental function can occur. [ 11 ] If treatment is delayed, spasticity, gait problems and dysarthria and profound mental disability may result. [patient.info]
Etiology
Since no other etiologies were found in TCH neonates without elevated UIC values, evaluation of other environmental and/or genetic factors is warranted. [ncbi.nlm.nih.gov]
Braverman, L. 2014-03-22 00:00:00 Objective: To assess transient congenital hypothyroidism (TCH) etiologies in two Iranian cities. Materials and methods: Cord dried blood spot samples were collected from neonates in Tehran and Damavand. [deepdyve.com]
Does congenital hypothyroidism have different etiologies in iran? Iran J Pediatr. 2011; 21 (2): 188-92[ PubMed ] 20. Parks JS, Lin M, Grosse SD, Hinton CF, Drummond-Borg M, Borgfeld L, et al. [endometabol.com]
Epidemiology
One important challenge in understanding the epidemiology of CH is that some newborns will have transient CH, a temporary depression of thyroid hormone concentrations that can last from several days to several months. [ncbi.nlm.nih.gov]
We report the epidemiologic findings of CH screening program in Isfahan, seven years after its development, regarding the prevalence of transient CH (TCH) and its screening properties comparing with permanent CH (PCH). [jrms.mui.ac.ir]
Also outlined have been the newest reports on the impact on CH epidemiology and classification generated by the introduction of low TSH cut-off (6 mU/l).The use of low TSH cut-off allowed the detection of an unsuspected number of children with neonatal [thyroidresearchjournal.biomedcentral.com]
Article Information Editor(s): (1) Janvier Gasana, Department of Environmental & Occupational Health, EO Epidemiology, and EO Medicine, Robert Stempel College of Public Health & Social Work, Florida International University, USA. [sciencedomain.org]
Pathophysiology
This study provides further evidence that the permanent or transient nature of congenital hypothyroidism is not directly related to the number of inactivated DUOX2 alleles, suggesting the existence of other pathophysiological factors. [ncbi.nlm.nih.gov]
Further studies for evaluating the role of other environmental, autoimmune and/or genetic factors in the pathophysiology of the disease is warranted. Key words: Congenital hypothyroidism, permanent, transient [jrms.mui.ac.ir]
In conclusion, here we discussed remarkable advances in the understanding of the pathophysiology the CH as well as in the identification of the mutations responsible for the disease. [clinical-and-molecular-endocrinology.imedpub.com]
Morris The sodium iodide symporter: its pathophysiological and therapeutic implications Clin Endocrinol (Oxf), 57 (2002), pp. 559-574 [6.] O. Dohan, A. De la Vieja, V. Paroder, C. Riedel, M. Artani, M. [elsevier.es]
Pathophysiology The thyroid gland develops from the buccopharyngeal cavity between 4 and 10 weeks' gestation. The thyroid arises from the fourth branchial pouches and ultimately ends up as a bilobed organ in the neck. [emedicine.medscape.com]
Prevention
BACKGROUND: Congenital hypothyroidism (CH) is one of the most common preventable causes of mental retardation. [ncbi.nlm.nih.gov]
Abstract BACKGROUND Congenital hypothyroidism (CH) is one of the most common preventable causes of mental retardation. [unboundmedicine.com]
Women who have autoimmune thyroid disease can transfer antibodies to the unborn baby that prevents the baby’s thyroid from functioning correctly. [empowher.com]
(UPTH) Congenital hypothyroidism is one of the commonest causes of preventable mental retardation. About 85% of cases of congenital hypothyroidism are sporadic. Most of the affected neonates show no clinical features at birth. [sciencedomain.org]
Globally, it is the most common preventable cause of intellectual disability 2,3. Newborn screening has been shown to reduce the burden of intellectual disability due to CHT 4. [imj.ie]