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 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.

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
Sign in / Sign up

Export Citation Format

Share Document