Thyroid scintigraphy and perchlorate test after recombinant human TSH: A new tool for the differential diagnosis of congenital hypothyroidism during infancy

Laura Fugazzola, Luca Persani, Guia Vannucchi, Marco Carletto, Deborah Mannavola, Maria Cristina Vigone, Francesca Cortinovis, Luciano Beccaria, Virgilio Longari, Giovanna Weber, Paolo Beck-Peccoz

Research output: Contribution to journalArticle

Abstract

Purpose: Prompt initiation of l-thyroxine therapy in neonates with congenital hypothyroidism (CH) often prevents the performance of functional studies. Aetiological diagnosis is thus postponed until after infancy, when the required investigations are performed after l-thyroxine withdrawal. The aim of this study was to verify the efficacy and safety of new protocols for rhTSH (Thyrogen) testing during l-thyroxine replacement in the differential diagnosis of CH. Methods: Ten CH patients (15-144 months old) were studied. Seven had neonatal evidence of gland in situ at the ultrasound examination performed at enrolment and received two rhTSH injections (4 μg/kg daily, i.m.) with 123I scintigraphy and perchlorate test on day 3. Three patients with an ultrasound diagnosis of thyroid dysgenesis received three rhTSH injections with 123I scintigraphy on days 3 and 4. TSH and thyroglobulin (Tg) determinations were performed on days 1, 3 and 4, and neck ultrasound on day 1. Results: rhTSH stimulation caused Tg levels to increase in eight cases. Blunted Tg responses were seen in two patients with ectopia and hypoplasia. Interestingly, in two cases the association of different developmental defects was demonstrated. Perchlorate test revealed a total iodide organification defect in two patients, including one with a neonatal diagnosis of Pendred's syndrome, who were subsequently found to harbour TPO mutations. rhTSH did not cause notable side-effects. Conclusion: These new rhTSH protocols always resulted in accurate disease characterisation, allowing specific management and targeted genetic analyses. Thus, rhTSH represents a valid and safe alternative to l-thyroxine withdrawal in the differential diagnosis of CH in paediatric patients.

Original languageEnglish
Pages (from-to)1498-1503
Number of pages6
JournalEuropean Journal of Nuclear Medicine and Molecular Imaging
Volume34
Issue number9
DOIs
Publication statusPublished - Sep 2007

Fingerprint

Thyrotropin Alfa
Congenital Hypothyroidism
Radionuclide Imaging
Thyroid Gland
Differential Diagnosis
Thyroxine
Thyroglobulin
Thyroid Dysgenesis
Injections
perchlorate
Iodides
Neck
Newborn Infant
Pediatrics
Safety

Keywords

  • Congenital hypothyroidism
  • Perchlorate test
  • Recombinant human TSH
  • Thyroid scintigraphy
  • Total iodide organification defect

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

Cite this

Thyroid scintigraphy and perchlorate test after recombinant human TSH : A new tool for the differential diagnosis of congenital hypothyroidism during infancy. / Fugazzola, Laura; Persani, Luca; Vannucchi, Guia; Carletto, Marco; Mannavola, Deborah; Vigone, Maria Cristina; Cortinovis, Francesca; Beccaria, Luciano; Longari, Virgilio; Weber, Giovanna; Beck-Peccoz, Paolo.

In: European Journal of Nuclear Medicine and Molecular Imaging, Vol. 34, No. 9, 09.2007, p. 1498-1503.

Research output: Contribution to journalArticle

Fugazzola, Laura ; Persani, Luca ; Vannucchi, Guia ; Carletto, Marco ; Mannavola, Deborah ; Vigone, Maria Cristina ; Cortinovis, Francesca ; Beccaria, Luciano ; Longari, Virgilio ; Weber, Giovanna ; Beck-Peccoz, Paolo. / Thyroid scintigraphy and perchlorate test after recombinant human TSH : A new tool for the differential diagnosis of congenital hypothyroidism during infancy. In: European Journal of Nuclear Medicine and Molecular Imaging. 2007 ; Vol. 34, No. 9. pp. 1498-1503.
@article{73dab501bd8d4ef7acba94353825bf3c,
title = "Thyroid scintigraphy and perchlorate test after recombinant human TSH: A new tool for the differential diagnosis of congenital hypothyroidism during infancy",
abstract = "Purpose: Prompt initiation of l-thyroxine therapy in neonates with congenital hypothyroidism (CH) often prevents the performance of functional studies. Aetiological diagnosis is thus postponed until after infancy, when the required investigations are performed after l-thyroxine withdrawal. The aim of this study was to verify the efficacy and safety of new protocols for rhTSH (Thyrogen) testing during l-thyroxine replacement in the differential diagnosis of CH. Methods: Ten CH patients (15-144 months old) were studied. Seven had neonatal evidence of gland in situ at the ultrasound examination performed at enrolment and received two rhTSH injections (4 μg/kg daily, i.m.) with 123I scintigraphy and perchlorate test on day 3. Three patients with an ultrasound diagnosis of thyroid dysgenesis received three rhTSH injections with 123I scintigraphy on days 3 and 4. TSH and thyroglobulin (Tg) determinations were performed on days 1, 3 and 4, and neck ultrasound on day 1. Results: rhTSH stimulation caused Tg levels to increase in eight cases. Blunted Tg responses were seen in two patients with ectopia and hypoplasia. Interestingly, in two cases the association of different developmental defects was demonstrated. Perchlorate test revealed a total iodide organification defect in two patients, including one with a neonatal diagnosis of Pendred's syndrome, who were subsequently found to harbour TPO mutations. rhTSH did not cause notable side-effects. Conclusion: These new rhTSH protocols always resulted in accurate disease characterisation, allowing specific management and targeted genetic analyses. Thus, rhTSH represents a valid and safe alternative to l-thyroxine withdrawal in the differential diagnosis of CH in paediatric patients.",
keywords = "Congenital hypothyroidism, Perchlorate test, Recombinant human TSH, Thyroid scintigraphy, Total iodide organification defect",
author = "Laura Fugazzola and Luca Persani and Guia Vannucchi and Marco Carletto and Deborah Mannavola and Vigone, {Maria Cristina} and Francesca Cortinovis and Luciano Beccaria and Virgilio Longari and Giovanna Weber and Paolo Beck-Peccoz",
year = "2007",
month = "9",
doi = "10.1007/s00259-007-0377-6",
language = "English",
volume = "34",
pages = "1498--1503",
journal = "European Journal of Pediatrics",
issn = "0340-6199",
publisher = "Springer Berlin Heidelberg",
number = "9",

}

TY - JOUR

T1 - Thyroid scintigraphy and perchlorate test after recombinant human TSH

T2 - A new tool for the differential diagnosis of congenital hypothyroidism during infancy

AU - Fugazzola, Laura

AU - Persani, Luca

AU - Vannucchi, Guia

AU - Carletto, Marco

AU - Mannavola, Deborah

AU - Vigone, Maria Cristina

AU - Cortinovis, Francesca

AU - Beccaria, Luciano

AU - Longari, Virgilio

AU - Weber, Giovanna

AU - Beck-Peccoz, Paolo

PY - 2007/9

Y1 - 2007/9

N2 - Purpose: Prompt initiation of l-thyroxine therapy in neonates with congenital hypothyroidism (CH) often prevents the performance of functional studies. Aetiological diagnosis is thus postponed until after infancy, when the required investigations are performed after l-thyroxine withdrawal. The aim of this study was to verify the efficacy and safety of new protocols for rhTSH (Thyrogen) testing during l-thyroxine replacement in the differential diagnosis of CH. Methods: Ten CH patients (15-144 months old) were studied. Seven had neonatal evidence of gland in situ at the ultrasound examination performed at enrolment and received two rhTSH injections (4 μg/kg daily, i.m.) with 123I scintigraphy and perchlorate test on day 3. Three patients with an ultrasound diagnosis of thyroid dysgenesis received three rhTSH injections with 123I scintigraphy on days 3 and 4. TSH and thyroglobulin (Tg) determinations were performed on days 1, 3 and 4, and neck ultrasound on day 1. Results: rhTSH stimulation caused Tg levels to increase in eight cases. Blunted Tg responses were seen in two patients with ectopia and hypoplasia. Interestingly, in two cases the association of different developmental defects was demonstrated. Perchlorate test revealed a total iodide organification defect in two patients, including one with a neonatal diagnosis of Pendred's syndrome, who were subsequently found to harbour TPO mutations. rhTSH did not cause notable side-effects. Conclusion: These new rhTSH protocols always resulted in accurate disease characterisation, allowing specific management and targeted genetic analyses. Thus, rhTSH represents a valid and safe alternative to l-thyroxine withdrawal in the differential diagnosis of CH in paediatric patients.

AB - Purpose: Prompt initiation of l-thyroxine therapy in neonates with congenital hypothyroidism (CH) often prevents the performance of functional studies. Aetiological diagnosis is thus postponed until after infancy, when the required investigations are performed after l-thyroxine withdrawal. The aim of this study was to verify the efficacy and safety of new protocols for rhTSH (Thyrogen) testing during l-thyroxine replacement in the differential diagnosis of CH. Methods: Ten CH patients (15-144 months old) were studied. Seven had neonatal evidence of gland in situ at the ultrasound examination performed at enrolment and received two rhTSH injections (4 μg/kg daily, i.m.) with 123I scintigraphy and perchlorate test on day 3. Three patients with an ultrasound diagnosis of thyroid dysgenesis received three rhTSH injections with 123I scintigraphy on days 3 and 4. TSH and thyroglobulin (Tg) determinations were performed on days 1, 3 and 4, and neck ultrasound on day 1. Results: rhTSH stimulation caused Tg levels to increase in eight cases. Blunted Tg responses were seen in two patients with ectopia and hypoplasia. Interestingly, in two cases the association of different developmental defects was demonstrated. Perchlorate test revealed a total iodide organification defect in two patients, including one with a neonatal diagnosis of Pendred's syndrome, who were subsequently found to harbour TPO mutations. rhTSH did not cause notable side-effects. Conclusion: These new rhTSH protocols always resulted in accurate disease characterisation, allowing specific management and targeted genetic analyses. Thus, rhTSH represents a valid and safe alternative to l-thyroxine withdrawal in the differential diagnosis of CH in paediatric patients.

KW - Congenital hypothyroidism

KW - Perchlorate test

KW - Recombinant human TSH

KW - Thyroid scintigraphy

KW - Total iodide organification defect

UR - http://www.scopus.com/inward/record.url?scp=34548185445&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34548185445&partnerID=8YFLogxK

U2 - 10.1007/s00259-007-0377-6

DO - 10.1007/s00259-007-0377-6

M3 - Article

C2 - 17318546

AN - SCOPUS:34548185445

VL - 34

SP - 1498

EP - 1503

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

SN - 0340-6199

IS - 9

ER -