scholarly journals CONGENITAL HYPOTHYROIDISM

2016 ◽  
pp. 95-98
Author(s):  
N. V. Nikolayenko
Keyword(s):  
Mental Retardation ◽  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Early Stage ◽  
Hormone Deficiency ◽  
Endocrine Disorder ◽  
Screening Programs ◽  
Adequate Therapy

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder whose incidence in newborns is 1:2,000 to 1:4,000. It is the leading cause of mental retardation. Neonatal Screening Programs make it possible to identify the disease at an early stage and to start the adequate therapy of the children, thanks to which it is possible to avoid complications related to the hormone deficiency.

scholarly journals Neonatal Detection of Congenital Hypothyroidism of Central Origin

2005 ◽  
Vol 90 (6) ◽  
pp. 3350-3359 ◽  
Author(s):  
David A. van Tijn ◽  
Jan J. M. de Vijlder ◽  
Bernard Verbeeten ◽  
Paul H. Verkerk ◽  
Thomas Vulsma
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Resonance Imaging ◽  
Pituitary Hormone Deficiency ◽  
Screening Programs ◽  
Central Origin

Due to the high frequency of concurrent pituitary hormone deficiencies, congenital hypothyroidism (CH) of central origin (CH-C) is a life-threatening disorder. Yet only a minority of these patients are detected by neonatal CH screening programs worldwide. We conducted a prospective multicenter study involving a 2-yr cohort of neonatally diagnosed CH-C patients to determine whether a T4-TSH-based neonatal CH screening protocol extended with T4 binding globulin determinations improves early detection of CH-C and to assess the extent of pituitary hormone deficiency among the identified CH-C patients. In all infants with screening results indicative of CH-C, the functional integrity of the hypothalamo-hypophyseal system was investigated by dynamic tests; the anatomical integrity was investigated by magnetic resonance imaging. Initial test results were evaluated after 5 yr of follow-up. Among 385,000 infants screened over the 2-yr period, 19 cases of permanent CH-C were detected (prevalence, 1:20,263; 95% confidence interval, 1:12,976 to 1:33,654), representing 13.5% of all detected cases of permanent CH. The majority (78%) had multiple pituitary hormone deficiency, whereas 53% had pituitary malformations on magnetic resonance imaging. We conclude that infants with CH-C can very well be detected by neonatal screening. The estimated prevalence and the severity of pituitary dysfunction of this treatable disorder call for explicit attention for this entity of CH in neonatal screening programs worldwide.

scholarly journals SCREENING FOR CONGENITAL HYPOTHYROIDISM WITH UMBILCAL CORD BLOOD TSH LEVEL ‘AN EXPERIENCE FROM A TERTIARY CARE CENTER'

2020 ◽  
pp. 26-27
Author(s):  
Rohan Modi ◽  
Harsh Mod ◽  
Aabha Phalak ◽  
Rutvik Parikh ◽  
Vilas Kavad ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cord Blood ◽  
Congenital Hypothyroidism ◽  
Care Center ◽  
Tertiary Care ◽  
Research Centre ◽  
College Hospital ◽  
Cross Sectional ◽  
Screening Programs ◽  
Serum Tsh

BACKGROUND:- Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation. Screening for congenital hypothyroidism can be helpful in preventing mental retardation among general population. Umbilical cord blood TSH (CBTSH) estimation has been universally accepted and is one of the most cost effective screening programs in the field of preventive medicine and public health. AIMS AND OBJECTIVES:- This study was aimed to find the effectiveness of cord blood TSH as a screening tool for congenital hypothyroidism. MATERIALS AND METHODS:- This hospital based cross sectional study was conducted at GCS Medical College Hospital & Research Centre, Ahmedabad, over a period of one year in 1687 neonates. All newborns delivered at the institute were subjected to cord blood TSH level estimation and a repeat Serum TSH estimation was done at or after 72 hours of life. Diagnosis of congenital hypothyroidism is confirmed postnatally by standard Serum TSH value cut offs as per age. Data collected and statistically analysed. RESULTS:- Out of 1687 neonates born during the study period, 1548 formed the study group. 805 (52%) were males and 743(48%) were females. The birth weight of babies ranged from 850 gms to 4300 gms. The value of CBTSH varied from 1.3mIU/L to 101.4mIU/L with mean CBTSH of 7.21mIU/L. 28(1.8%) babies had CBTSH levels >20mIU/L. Out of which four were later diagnosed to have congenital hypothyroidism. All four had CBTSH levels >20mIU/L. All other neonates with CBTSH levels less than 20mIU/L were found to have normal screening later postnatally. CONCLUSION:- The current study concludes that cord blood TSH is a sensitive marker to screen for congenital hypothyroidism in neonates. A cut off value of cord blood TSH >20mIU/ml can be used for screening purpose.

scholarly journals Neonatal Screening for Congenital Hypothyroidism with Focus on Developing an Indian Screening Programme

2016 ◽  
Vol 12 (2) ◽  
pp. 99
Author(s):  
Jubbin Jagan Jacob ◽  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Resource Constraints ◽  
Screening Programme ◽  
Standard Of Care ◽  
Neurological Impairment ◽  
Current Understanding ◽  
Hormone Deficiency ◽  
Levothyroxine Replacement ◽  
Long Term Follow Up

Neonatal screening for congenital hypothyroidism, along with eradication of iodine deficiency in large parts of the world, has made it possible to prevent the development of permanent neurological impairment due to thyroid hormone deficiency in the developing brain. The first successful screening programme was demonstrated in Canada in 1973 and since then it has been standard of care in most developed societies. In India there is no national programme for neonatal screening, and screening is only done in selected larger hospitals on newborns whose parents fund it. This review summarises the current understanding of the various strategies for newborn screening that could potentially be employed in India with resource constraints. Once a case is detected, the further evaluation and determination of etiology is summarised. Treatment and long term follow-up with levothyroxine replacement is also described in detail as per current understanding.

scholarly journals Neonatal screening for congenital hypothyroidism: results and perspectives. Hormone research

2000 ◽  
Vol 46 (1) ◽  
pp. 37-46
Author(s):  
F. Delange
Keyword(s):  
Mental Retardation ◽  
Thyroid Hormones ◽  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Hepatitis A ◽  
Postnatal Period ◽  
Pediatric Endocrinology ◽  
Industrial Countries ◽  
Hormone Research ◽  
The Brain

Congenital hypothyroidism (HB) is detected in 1 out of 4,000 newborns [1, 2]. G is one of the most common diseases in pediatric endocrinology [3 |, as well as one of the most common cases of reversible brain damage and mental retardation in industrial countries. The delay in mental development in hepatitis A is associated with the fact that thyroid hormones take an active part in the development of the brain | 4], the formation of which occurs in utero and in the early postnatal period until the 2nd or 3rd year of life [5].

scholarly journals Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection

2017 ◽  
Vol 88 (3-4) ◽  
pp. 274-280 ◽  
Author(s):  
Débora Braslavsky ◽  
Maria Virginia Méndez ◽  
Laura Prieto ◽  
Ana Keselman ◽  
Rosa Enacan ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Screening Program ◽  
Recall Rate ◽  
Free T4 ◽  
Screening Programs ◽  
Screening Study ◽  
Term Newborns ◽  
Neonatal Screening Program ◽  
Congenital Hypopituitarism

Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. Patients and Methods: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2–7 days. Those with T4 ≤4.5 µg/dL (–2.3 SDS) and TSH <10 mIU/L were recalled (suspicious of CCH) and underwent clinical and biochemical assessment performed by expert pediatric endocrinologists. Results: A total of 67,719 newborns were screened. Primary CH was confirmed in 24 (1: 2,821). Forty-four newborns with potential CCH were recalled (recall rate 0.07%) at a mean age of 12.6 ± 4.8 days. In this group, permanent CCH was confirmed in 3 (1: 22,573), starting L-T4 treatment at a mean age of 12.3 ± 6.6 days; 14 boys showed T4-binding globulin deficiency (1: 4,837); 24 had transient hypothyroxinemia (21 non-thyroidal illness and 3 healthy); and 3 died before the confirmation stage. According to initial free T4 measurements, CCH patients had moderate hypothyroidism. Conclusions: Adding T4 to TSH measurements enabled the identification of CCH as a prevalent condition and contributed to improving the care of newborns with congenital hypopituitarism and recognizing other thyroidal disorders.

Descriptive Epidemiology of Missed Cases of Phenylketonuria and Congenital Hypothyroidism

PEDIATRICS ◽  
1986 ◽  
Vol 78 (4) ◽  
pp. 553-558
Author(s):  
Candy Holtzman ◽  
William E. Slazyk ◽  
José F. Cordero ◽  
W. Harry Hannon
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Telephone Survey ◽  
Screening Program ◽  
Descriptive Epidemiology ◽  
Screening Programs ◽  
Specimen Collection ◽  
True Number ◽  
Laboratory Procedures

We conducted a structured telephone survey of state public health laboratory directors of neonatal screening programs to determine the extent of the problem of missed cases of phenylketonuria (PKU) and congenital hypothyroidism. A total of 76 missed cases were reported—43 PKU and 33 congenital hypothyroidism. We looked at the following characteristics of the missed cases: the stage at which the miss occurred, which included specimen collection, laboratory procedures, or follow-up; the size of the program; the type of screening program; the age of the infant at the time of screening; and any legal action that resulted from the miss. The 76 missed cases probably represent an underascertainment of the true number, yet we believe that our data provide an overview of some of the problems associated with mass neonatal screening. There was one missed case of PKU for every 70 cases detected, and one missed case of congenital hypothyroidism for every 120 cases detected; in other words, two congenital hypothyroidism cases were missed for every 1 million infants screened. Regarding the stage of screening in which the miss occurred, 14% occurred during specimen collection, 45% during the laboratory procedures stage, 16% during follow-up, 11% were the result of biologic variation, and in 14% the stage could not be identified. We conclude that neonatal screening programs have been highly successful but that there may be additional safeguards to be developed, tested, and implemented when practical.

scholarly journals Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism

2004 ◽  
Vol 48 (1) ◽  
pp. 70-82 ◽  
Author(s):  
Jussara Vono-Toniolo ◽  
Peter Kopp
Keyword(s):  
Thyroid Hormone ◽  
Congenital Hypothyroidism ◽  
Early Recognition ◽  
Wide Spectrum ◽  
Hormone Deficiency ◽  
Follicular Cells ◽  
Thyroid Dysgenesis ◽  
Hormone Synthesis ◽  
Screening Programs ◽  
Thyroid Follicular Cells

Congenital hypothyroidism affects about 1:3000-1:4000 infants. Screening programs now permit early recognition and treatment, thus avoiding the disastrous consequences of thyroid hormone deficiency on brain development. In about 85%, congenital hypothyroidism is associated with developmental defects referred to as thyroid dysgenesis. They include thyroid (hemi)agenesis, ectopic tissue and thyroid hypoplasia. Thyroid dysgenesis is usually sporadic; in only 2% it occurs in a familial fashion. It can be caused by mutations in transcription factors that are essential for the development and function of thyroid follicular cells. Thyroid hypoplasia can also result from resistance to TSH at the level of the thyrocytes. Defects in the steps required for thyroid hormone synthesis within thyroid follicular cells are referred to as dyshormonogenesis and account for about 10-15% of congenital hypothyroidism. In contrast to thyroid dysgenesis, affected patients typically present with goitrous enlargement of the thyroid. The defects leading to dyshormonogenesis typically display a recessive mode of inheritance. Careful clinical, biochemical and molecular analyses of patients with syndromic and non-syndromic forms of thyroid dysgenesis and dyshormonogenesis have significantly enhanced our understanding of the wide spectrum of pathogenetic mechanisms underlying congenital hypothyroidism and provide unique insights into the (patho)physiology of thyroid development and hormone synthesis.

scholarly journals A Newborn Falsely Suspected of Congenital Hypothyroidism due to Mutated Thyroxine-Binding Globulin with Low Binding Affinity

2021 ◽  
pp. 1-5
Author(s):  
Rutger C.C. Hengeveld ◽  
Monique Albersen ◽  
Michael A.H. Hadders ◽  
Ilse Hellinga ◽  
Hennie Bikker ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Screening Program ◽  
Sequencing Analysis ◽  
Free T4 ◽  
Gene Encoding ◽  
Central Hypothyroidism ◽  
Thyroxine Binding Globulin ◽  
Screening Programs ◽  
Dna Sequencing Analysis

<b><i>Introduction:</i></b> Neonatal screening programs for congenital hypothyroidism (CH) have been implemented worldwide to facilitate early diagnosis and treatment. The Dutch neonatal CH screening is primarily based on the measurement of thyroxine (T4). When T4 is low, an additional thyroxine-binding globulin (TBG) measurement is performed to reduce the number of false-positive screening results due to harmless TBG deficiency. Here, we present a case of a rare functional TBG deficiency leading to a false suspicion of CH. <b><i>Case Presentation:</i></b> Neonatal screening in this patient revealed a decreased T4, normal TSH, and normal TBG concentration, suggesting central CH. However, free T4 was normal. DNA sequencing analysis revealed a novel, hemizygous mutation (c.139G&#x3e;A) in <i>SERPINA7</i>, the gene encoding TBG, resulting in the substitution of the conserved amino acid alanine to threonine at position 27. Crystal structure analyses showed that this substitution has a detrimental effect on binding of T4 to TBG. <b><i>Conclusions:</i></b> The novel <i>SERPINA7</i> variant in this patient led to a false suspicion of central hypothyroidism in the Dutch T4-based neonatal screening program. It is important to recognize patients with such TBG defects to prevent unnecessary additional testing and treatment.

Guidelines for Neonatal Screening Programs for Congenital Hypothyroidism

1994 ◽  
Vol 41 (1) ◽  
pp. 1-2 ◽  
Author(s):  
A. Gr&uuml;ters ◽  
F. Delange ◽  
G. Giovannelli ◽  
M. Klett ◽  
P. Rochiccioli ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Screening Programs
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