Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh

JCRPE Journal of Clinical Research in Pediatric Endocrinology

Volumn 3, Issue 4, 2011, Pages 208-211

  Barreiro, Jesús ^a   Alonso Fernández, Jóse Ramón ^b   Castro Feijoo, Lidia ^a   Colón, Cristóbal ^b   Cabanas, Paloma ^a   Heredia, Claudia ^a   Castaño, Luis Antonio ^c   Gómez Lado, Carmen ^b   Luz Couce, M ^b   Pombo, Manuel ^a  

^a Univ Clin Hosp Santiago C   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^c UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

Author keywords

Congenital hypothyroidism; Neurological pathology; Newborn screening; Respiratory pathology; TITF1 NKX2 1gene; TSH cut off

Indexed keywords

THYROTROPIN;

ARTICLE; BLOOD SAMPLING; CASE REPORT; CONGENITAL HYPOTHYROIDISM; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; NEUROLOGIC DISEASE; NEWBORN; NEWBORN SCREENING; RESPIRATORY TRACT DISEASE; THYROTROPIN BLOOD LEVEL;

EID: 83455162849     PISSN: 13085727     EISSN: 13085735     Source Type: Journal    
DOI: 10.4274/jcrpe.448     Document Type: Article

References (27)

1. Colon C, Alonso-Fernández JR. The TSH threshold in neonatal screening for congenital hypothyroidism: a variable solution. Arch Dis Child 2011;96:565-566.
2. Asociación Española de Cribado Neonatal (AECNE). Programas de cribado neonatal en España. Madrid. Do wn lo a d a b l e fro m http://www.aecne.es/pdf/datos2006.pdf.
3. Fisher DA. 1996. Disorders of the thyroid in the newborn and infant. In: Sperling M (ed), Pediatric Endocrinology, WB Saunders Co., Philadelphia.
4. Santisteban P, Bernal J. Thyroid development and effect on the nervous system. Rev Endocr Metab Disord 2005;6:217-228.
5. De Felice M, Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 2004;25:722-746.
6. Damante G, Tell G, Di Lauro R. A unique combination of transcription factors controls differentiation of thyroid cells. Prog Nucleic Acid Mol Biol 2000;66:307-356.
7. Lazzaro D, Price M, De Felice M, Di Lauro R. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 1991;113:1093-1104.
8. Trueba SS, Auge J, Mattei G, Etchevers H, Martinovic J, Czernichow P, Vekemans M, Polak M, Attié-Bitach T. PAX8, TITF-1 and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab 2005;90:455-462.
9. Moya C M, Perez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, Bargadá M, Coya R, Martul P, Vicens-Calvet E, Santisteban P. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. J Clin Endocrinol Metab 2006;91:1832-1841.
10. Niimi T, Kurotani R, Kimura S, Kitagawa Y. Identification and expression of alternative splice variants of the mouse Ppp1r3b gene in lung epithelial cells. Biochem Biophys Res Commun 2006;349:588-596.
11. Pleasure SJ, Anderson S, Hevner R, Baqri A, Marin O, Lowestein DH, Rubenstein JL. Cell migration from the ganglionic eminences is required for the development of hippocampal GABAergic interneurons. Neuron 2000;28:727-740.
12. Sussel L, Marin O, Kimura S, Rubenstein JL. Loss of NKX2.1 homebox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into striatum. Development 1999;126:3359-3370.
13. Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tönnies H, Weise D, Lafferty A, Schwarz S, De Felice M, von Deimlinq A, van Landeghem F, DiLauro R, Grüters A. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2.1 haploinsufficiency. J Clin Invest 2002;109:475-480.
14. Devriendt K, Vanhole C, Matthijs G, de Zegher F. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 1998;338:1317-1318.
15. Pohlenz J, Dumitrescu A, Zundel D, Martiné U, Schönberger W, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 2002;109:469-473.
16. Doyle D, Gonzalez I, Thomas B, Scavina M. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2.1. J Pediatr 2004;145:190-193.
17. Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000;137:272-276.
18. Moya CM, Pérez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, Bargadá M, Coya R, Martul P, Vicens-Calvet E, Santisteban P. Functional study of a novel single deletion in the TITF1/NKX2.1 homebox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. J Clin Endocrinol Metab 2006;91:1832-1841.
19. Pryce RA, Gregory JW, Warner JT, John R, Bradley D, Evans C. Is the current threshold level for screening of congenital hypothyroidism too high? An audit of the clinical evaluation, confirmatory diagnostic tests and treatment of infants with increased blood spot thyroid-stimulating hormone concentrations identified on newborn blood spot screening in Wales. Arch Dis Child 2007;92:1048.
20. Korada SM, Pearce M, Ward-Platt MP, Avis E, Turner S, Wastell H, Cheethan T. Difficulties in selecting an appropriate neonatal thyroid stimulating hormone (TSH) screening threshold. Arch Dis Child 2010;95:169-173.
21. Krude H, Blankenstein O. Treating patients not numbers: the benefit and burden of lowering TSH newborn screening cut-offs. Arch Dis Child 2011;96:121-122.
22. Corbetta C, Webert G, Cortinovis F, Calebiro D, Passoni A, Vigone MC, Beck-Peccoz P, Chiumello G, Persani L. A 7-year experience with low blood TSH cut-off levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol 2009;71:739-745.
23. Cheetham T. Congenital hypothyroidism: managing the hinterland between fact and theory. Arch Dis Child 2011;96:205.
24. Mengreli C, Kanaka-Gantenbein C, Girginoudis P, Magiakou MA, Christakopoulou I, Giannoulia-Karantana A, Chrousos GP, Dacou-Voutetakis C. Screening for congenital hypothyroidism: the significance of threshold limit in false- negative results. J Clin Endocrinol Metab 2010;95:4283-4290.
25. Lott JA, Sardovia-Iyer M, Speakman KS, Lee KK. Age-dependent cut-off values in screening newborns for Hypothyroidism. Clin Biochem 2004;37:791-797.
26. Jones JH, Mackenzie J, Croft GA, Beaton S, Young D, Donaldson MD. Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003. Arch Dis Child 2006;91:680-685.
27. Kempers MJ, Lanting CI, van Heijst AF, van Trotsenburg AS, Wiedijk BM, de Vijder JJ, Vulsma T. Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. J Clin Endocrinol Metab 2006;91:3370-3376.