Congenital Hypothyroidism

被引:97
作者
Wassner, Ari J. [1 ]
机构
[1] Harvard Med Sch, Boston Childrens Hosp, Div Endocrinol, Thyroid Program, 300 Longwood Ave, Boston, MA 02115 USA
关键词
Congenital hypothyroidism; Neonatal thyroid; Development; Leyothyroxine; Dysgenesis; Dyshormonogenesis; THYROID-HORMONE REPLACEMENT; COGNITIVE-DEVELOPMENT; REFERENCE INTERVALS; DUOX2; MUTATIONS; SOY FORMULA; THYROTROPIN; CHILDREN; THYROXINE; OUTCOMES; INFANTS;
D O I
10.1016/j.clp.2017.10.004
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Congenital hypothyroidism is common and can cause severe neurodevelopmental morbidity. Prompt diagnosis and treatment are critical to optimizing long-term outcomes. Universal newborn screening is an important tool for detecting congenital hypothyroidism, but awareness of its limitations, repeated screening in high-risk infants, and a high index of clinical suspicion are needed to ensure that all affected infants are appropriately identified and treated. Careful evaluation will usually reveal the etiology of congenital hypothyroidism, which may inform treatment and prognosis. Early and adequate treatment with levothyroxine results in excellent neurodevelopmental outcomes for most patients with congenital hypothyroidism.
引用
收藏
页码:1 / +
页数:19
相关论文
共 79 条
[61]   Neurodevelopmental outcomes in congenital hypothyroidism:: Comparison of initial T4 dose and time to reach target t4 and TSH [J].
Selva, KA ;
Harper, A ;
Downs, A ;
Blasco, PA ;
LaFranchi, SH .
JOURNAL OF PEDIATRICS, 2005, 147 (06) :775-780
[62]   Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism [J].
Senee, Valerie ;
Chelala, Claude ;
Duchatelet, Sabine ;
Feng, Daorong ;
Blanc, Herve ;
Cossec, Jack-Christophe ;
Charon, Celine ;
Nicolino, Marc ;
Boileau, Pascal ;
Cavener, Douglas R. ;
Bougneres, Pierre ;
Taha, Doris ;
Julier, Cecile .
NATURE GENETICS, 2006, 38 (06) :682-687
[63]   Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine [J].
Simoneau-Roy, J ;
Marti, S ;
Deal, C ;
Huot, C ;
Robaey, P ;
Van Vliet, G .
JOURNAL OF PEDIATRICS, 2004, 144 (06) :747-752
[64]   The Effects of Gestational Age and Birth Weight on False-Positive Newborn-Screening Rates [J].
Slaughter, Jonathan L. ;
Meinzen-Derr, Jareen ;
Rose, Susan R. ;
Leslie, Nancy D. ;
Chandrasekar, Ram ;
Linard, Sharon M. ;
Akinbi, Henry T. .
PEDIATRICS, 2010, 126 (05) :910-916
[65]   Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement [J].
Sun, Yu ;
Bak, Beata ;
Schoenmakers, Nadia ;
van Trotsenburg, A. S. Paul ;
Oostdijk, Wilma ;
Voshol, Peter ;
Cambridge, Emma ;
White, Jacqueline K. ;
le Tissier, Paul ;
Gharavy, S. Neda Mousavy ;
Martinez-Barbera, Juan P. ;
Stokvis-Brantsma, Wilhelmina H. ;
Vulsma, Thomas ;
Kempers, Marlies J. ;
Persani, Luca ;
Campi, Irene ;
Bonomi, Marco ;
Beck-Peccoz, Paolo ;
Zhu, Hongdong ;
Davis, Timothy M. E. ;
Hokken-Koelega, Anita C. S. ;
Del Blanco, Dania Gorbenko ;
Rangasami, Jayanti J. ;
Ruivenkamp, Claudia A. L. ;
Laros, Jeroen F. J. ;
Kriek, Marjolein ;
Kant, Sarina G. ;
Bosch, Cathy A. J. ;
Biermasz, Nienke R. ;
Appelman-Dijkstra, Natasha M. ;
Corssmit, Eleonora P. ;
Hovens, Guido C. J. ;
Pereira, Alberto M. ;
den Dunnen, Johan T. ;
Wade, Michael G. ;
Breuning, Martijn H. ;
Hennekam, Raoul C. ;
Chatterjee, Krishna ;
Dattani, Mehul T. ;
Wit, Jan M. ;
Bernard, Daniel J. .
NATURE GENETICS, 2012, 44 (12) :1375-1381
[66]  
Szinnai G, 2014, ENDOCR DEV, V26, P60, DOI 10.1159/000363156
[67]   Iodine-Induced Hypothyroidism in Full-term Infants With Congenital Heart Disease: More Common Than Currently Appreciated? [J].
Thaker, V. V. ;
Leung, A. M. ;
Braverman, L. E. ;
Brown, R. S. ;
Levine, B. .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2014, 99 (10) :3521-3526
[68]   Neonatal thyroid-stimulating hormone concentration and psychomotor development at preschool age [J].
Trumpff, Caroline ;
De Schepper, Jean ;
Vanderfaeillie, Johan ;
Vercruysse, Nathalie ;
Van Oyen, Herman ;
Moreno-Reyes, Rodrigo ;
Tafforeau, Jean ;
Vandevijvere, Stefanie .
ARCHIVES OF DISEASE IN CHILDHOOD, 2016, 101 (12) :1100-U132
[69]   Thyroid-Stimulating Hormone (TSH) Concentration at Birth in Belgian Neonates and Cognitive Development at Preschool Age [J].
Trumpff, Caroline ;
De Schepper, Jean ;
Vanderfaeillie, Johan ;
Vercruysse, Nathalie ;
Van Oyen, Herman ;
Moreno-Reyes, Rodrigo ;
Tafforeau, Jean ;
Vanderpas, Jean ;
Vandevijvere, Stefanie .
NUTRIENTS, 2015, 7 (11) :9018-9032
[70]   TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice [J].
Turgeon, Marc-Olivier ;
Silander, Tanya L. ;
Doycheva, Denica ;
Liao, Xiao-Hui ;
Rigden, Marc ;
Ongaro, Luisina ;
Zhou, Xiang ;
Joustra, Sjoerd D. ;
Wit, Jan M. ;
Wade, Mike G. ;
Heuer, Heike ;
Refetoff, Samuel ;
Bernard, Daniel J. .
ENDOCRINOLOGY, 2017, 158 (04) :815-830