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.

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.

Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil

2020 ◽  
Vol 33 (11) ◽  
pp. 1449-1455
Author(s):  
Suzana Nesi-França ◽  
Rodrigo B. Silveira ◽  
Juliana Cristina R. Rojas Ramos ◽  
Adriane A. Cardoso-Demartini ◽  
Monica N. Lima Cat ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Adult Height ◽  
Screening Program ◽  
Pubertal Development ◽  
Z Score ◽  
Normal Range ◽  
Adequate Treatment ◽  
Increased Risk ◽  
Puberty Onset

AbstractObjectivesAdequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, secondly, to evaluate adult height (AH) in a subgroup of patients.MethodsClinical, laboratory, and auxological data obtained from medical records of 174 patients (123 girls).ResultsMedian chronological age (CA) at treatment initiation was 24 days, and mean initial levothyroxine dose was 11.7 ± 1.9 μg/kg/day; mean CA at puberty onset was 11.5 ± 1.3 years (boys) and 9.7 ± 1.2 years (girls); mean CA in girls who underwent menarche (n=81) was 12.1 ± 1.1 years. Thyroid-stimulating hormone (TSH) values above the normal range were observed in 36.4% of the boys and 32.7% of the girls on puberty onset, and in 44.6% around menarche. Among 15 boys and 66 girls who had reached the AH, the median height z-score value was significantly greater than the target height (TH) z-score value in boys (p=0.01) and in girls (p<0.001). Boys with normal TSH values at puberty onset had greater mean AH z-score compared with boys with TSH values above the normal range (p=0.04).ConclusionsIn this group, pubertal development in girls with CH was not different from that reported in healthy girls in the general Brazilian population. Boys with higher TSH at puberty onset may have an increased risk of not reaching their potential height compared with those with normal TSH during this period. In a subgroup who attained AH, the median AH z-score was greater than the median TH z-score.

Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism

1982 ◽  
Vol 5 (1) ◽  
pp. 21-25 ◽  
Author(s):  
M. Carta Sorcini ◽  
L. Moschini ◽  
L. Fiore ◽  
S. Tomarchio ◽  
M. G. Di Iorio ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Thyroxine Binding Globulin

scholarly journals Universal Implementation of Newborn Screening in India

2020 ◽  
Vol 6 (2) ◽  
pp. 24 ◽  
Author(s):  
Thomas Mookken
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Universal Screening ◽  
Screening Program ◽  
Developed Countries ◽  
Screening Programs ◽  
Successful Program ◽  
Personal Experiences ◽  
High Incidence ◽  
Glucose 6 Phosphate Dehydrogenase

Newborn screening is a successful program in many developed countries. In India, the benefits of dried blood spot screening have been recognized and that screening is slowly gaining traction. There are significant issues standing in the way of universal implementation of a newborn screening program in India: awareness, cost, advocacy, public policy, and politics. Three regional screening programs, Chandigarh, Goa, and Kerala could serve as models for other programs in India. The data for this commentary were based on personal experiences from managing public newborn screening programs, searches on PubMed and Google, and personal interactions with experts in the field. The overwhelming recommendation is to universally screen for congenital hypothyroidism in India, because it is easy and inexpensive to treat, with excellent outcomes. It would also be beneficial to consider screening universally for glucose-6-phosphate dehydrogenase deficiency due to its high incidence and ease of treatment. Finally, sickle cell disease should be screened in those areas in India where it is prevalent due to the costs associated with universal screening. Achieving universal screening is a challenge, and it is very difficult to predict when every baby born in India will be screened for at least congenital hypothyroidism.

scholarly journals Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls

2006 ◽  
Vol 91 (9) ◽  
pp. 3370-3376 ◽  
Author(s):  
M. J. E. Kempers ◽  
C. I. Lanting ◽  
A. F. J. van Heijst ◽  
A. S. P. van Trotsenburg ◽  
B. M. Wiedijk ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Thyroxine Binding Globulin

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.

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