Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during l
-thyroxine replacement

When diagnosed through neonatal screening and treated promptly and adequately, infants with congenital hypothyroidism (CH) experience normal physical growth and neurological development. Here we present a 3-year-old boy diagnosed with CH as a newborn, who was subsequently left untreated and experienced significant growth failure and developmental delay. This case emphasizes the importance of a consistent adherence to treatment in preventing such complications, especially in infancy and early childhood.

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Basal serum thyroxine level should guide initial thyroxine replacement dose in neonates with congenital hypothyroidism

Journal of Clinical Research in Pediatric Endocrinology ◽

10.4274/jcrpe.galenos.2020.2020.0194 ◽

2020 ◽

Vol 0 (0) ◽

pp. 0-0

Author(s):

Ceren Günbey ◽

Alev Özön ◽

E. Nazlı Gönç ◽

Ayfer Alikaşifoğlu ◽

Sevilay Karahan ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Serum Thyroxine ◽

Thyroxine Level ◽

Basal Serum ◽

Thyroxine Replacement

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Serum thyroglobulin determinations in the differential diagnosis of congenital hypothyroidism

Journal of Endocrinological Investigation ◽

10.1007/bf03348372 ◽

1984 ◽

Vol 7 (1) ◽

pp. 29-33 ◽

Cited By ~ 9

Author(s):

F. Pacini ◽

R. Lari ◽

P. La Ricca ◽

L. Grasso ◽

F. Di Bartolo ◽

...

Keyword(s):

Differential Diagnosis ◽

Congenital Hypothyroidism ◽

Serum Thyroglobulin

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PERSISTENT TRH-INDUCED GROWTH HORMONE RELEASE AFTER SHORT-TERM AND LONG-TERM L-THYROXINE REPLACEMENT THERAPY IN PRIMARY CONGENITAL HYPOTHYROIDISM

Clinical Endocrinology ◽

10.1111/j.1365-2265.1985.tb00183.x ◽

1985 ◽

Vol 23 (1) ◽

pp. 61-66 ◽

Cited By ~ 8

Author(s):

M. FAGGIANO ◽

T. CRISCUOLO ◽

M. GRAZIANI ◽

S. IORIO ◽

G. PISANO ◽

...

Keyword(s):

Growth Hormone ◽

Replacement Therapy ◽

Congenital Hypothyroidism ◽

Hormone Release ◽

Growth Hormone Release ◽

Short Term ◽

Thyroxine Replacement ◽

Thyroxine Replacement Therapy

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A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in theThyroid peroxidaseGene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter

International Journal of Endocrinology ◽

10.1155/2013/987186 ◽

2013 ◽

Vol 2013 ◽

pp. 1-7 ◽

Cited By ~ 5

Author(s):

Ching Chin Lee ◽

Fatimah Harun ◽

Muhammad Yazid Jalaludin ◽

Choon Han Heh ◽

Rozana Othman ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Active Site ◽

Multinodular Goiter ◽

Novel Mutation ◽

Family Members ◽

Pcr Amplification ◽

Thyroid Peroxidase ◽

Structural Alterations ◽

Healthy Family ◽

Thyroxine Replacement

Congenital hypothyroidism (CH) with multinodular goiter (MNG) is uncommonly seen in children. However, CH associated with goiter is often caused by defectiveThyroid peroxidase(TPO) gene. In this study, we screened for mutation(s) in theTPOgene in two siblings with CH and MNG and their healthy family members. The two sisters, born to consanguineous parents, were diagnosed with CH during infancy and received treatment since then. They developed MNG during childhood despite adequate L-thyroxine replacement and negative thyroid antibody screening. PCR-amplification of all exons using flanking primers followed by DNA sequencing revealed that the two sisters were homozygous for a novel c.1502T>G mutation. The mutation is predicted to substitute valine for glycine at a highly conserved amino acid residue 501 (p.Val501Gly). Other healthy family members were either heterozygotes or mutation-free. The mutation was not detected in 50 healthy unrelated individuals.In silicoanalyses using PolyPhen-2 and SIFT predicted that the p.Val501Gly mutation is functionally “damaging.” Tertiary modeling showed structural alterations in the active site of the mutant TPO. In conclusion, a novel mutation, p.Val501Gly, in theTPOgene was detected expanding the mutation spectrum ofTPOassociated with CH and MNG.

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