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]
In the present case, the infant’s initial New Born Screen (NBS) was normal. The second newborn screen showed an elevated TSH with normal free T4. [digitalcommons.hsc.unt.edu]
These TSH- R blocking antibodies are present in newborn’s serum and used to disappear from infant’s circulation by 3rd month of life [ 1 ]. [alliedacademies.org]
Weiner, Bernard Gonik, Caroline Crowther, and Stephen Robson present an evidence-based approach to the available management options, equipping you with the most appropriate strategy for each patient. [books.google.com]
Entire Body System
- Disability
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]
Management The aim of treatment is early detection and early thyroid hormone replacement to ensure that infants do not develop irreversible neurological disability. [patient.info]
Rarely, delayed diagnosis and treatment of severe hypothyroidism lead to intellectual disability and short stature. [msdmanuals.com]
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. [en.wikipedia.org]
Raising Children with Congenital Hypothyroidism March 14, 2014 by Blythe 3 Comments WELCOME TO HOLLAND by Emily Perl Kingsley I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared [thyroidmom.com]
- Developmental Delay
If left untreated, congenital hypothyroidism leads to developmental delay and mental retardation; however, with early treatment, intellectual outcomes are greatly improved. [mdedge.com]
delay than children born without symptoms. [magicfoundation.org]
Congenital hypothyroidism affects about one out of every 4000 newborn babies and is considered among the most common and treatable causes of developmental delay worldwide. [verywell.com]
Her last pregnancy resulted in a female baby weighing 2.5kg in July 2009 (after starting treatment for hypothyroidism) and did not show any motor or developmental delay or other features suggestive of hypothyroidism up to the current age of 1½yrs. [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]
- 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]
Gastrointestinal
- 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]
Liver, Gall & Pancreas
- Neonatal Jaundice
Hypothyroidism was diagnosed in front of clinical signs in four cases, persisting neonatal jaundice in two cases. Biological assessment confirmed hypothyroidism: FT 4 average 6.5 pmol/l, mean TSH 35 μ/l. [abstracts.eurospe.org]
(yellow) R17 ICD-10-CM Diagnosis Code R17 Unspecified jaundice 2016 2017 2018 2019 Billable/Specific Code Type 1 Excludes neonatal jaundice ( P55, P57 - P59 ) newborn P59.9 ICD-10-CM Diagnosis Code P59.9 Neonatal jaundice, unspecified 2016 2017 2018 [icd10data.com]
Jaw & Teeth
- 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]
Skin
- Dry Skin
skin Low body temperature Prolonged jaundice A goiter ( enlarged thyroid ) Abnormally low muscle tone Puffy face Cold extremities Thick coarse hair that goes low on the forehead A large fontanel (soft spot) A herniated (protruding) bellybutton Little [verywell.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]
Face, Head & Neck
- Large Anterior Fontanels
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]
Psychiatrical
- Euphoria
[…] loose BM -perfuse diaphoresis -tachycardia -mood swings -mild euphoria -extreme activity -depression -menstrual irregularity -pain intolerance -heat intolerance -hand tremor at rest -thin soft hair -delerium What are three hallmarks of Grave's Disease [quizlet.com]
Neurologic
- Confusion
Some confusion arises regarding the differentiation of transient hypothyroidism from transient hyperthyrotropinemia, which might represent a continuum along a scale of thyroid dysfunction. [pediatrics.aappublications.org]
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]
X-Ray
- Delayed Bone Age
Among the cohort with poor compliance to therapy only 33 (61.1%) patients had normal height for age and 21 (38.9%) patients height were less than 2 SD height for age associated with delayed bone age. [journals.plos.org]
Treatment
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]
However, a certain number of cases were never trialed off treatment and so remained classified as indeterminate. [karger.com]
Infants who do not receive treatment should have repeat measurement of FT 4 and TSH at two and four weeks, with initiation of treatment if results remain abnormal. [aafp.org]
Generally, thyroid hormone levels are expected to reach normal values within about 10 days after the initiation of treatment. Treatment will continue for as long as the condition is present. [verywell.com]
Prognosis
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]
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]
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]
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]
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]
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]