Sommario
L’ipotiroidismo congenito (IC) è la più frequente patologia endocrina presente alla nascita. Un ritardo nella diagnosi o nel trattamento possono provocare disturbi dell’accrescimento o disturbi neuropsicologici, che possono essere prevenuti da un tempestivo inizio della terapia sostitutiva con L-Tiroxina entro le prime 2 settimane dopo la nascita. La diagnosi precoce viene eseguita alla nascita mediante la misura di TSH o TSH e T4 su spot. Dopo una conferma di IC con dosaggio di FT4 e TSH su siero, la terapia con L-tiroxina dovrebbe essere iniziata immediatamente. Altri esami diagnostici come l’ecografia e la scintigrafia tiroidea possono essere utlizzati per la definizione della causa di IC.
Bibliografia
Léger J, Olivieri A, Donaldson M et al. (ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group) (2014) European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab 99(2):363–384
Bongers-Schokking JJ, de Muinck Keizer-Schrama SMPF (2005) Influence and timing of the dose of thyroid hormone replacement on mental, psychomotor, and behavioral development in children with congenital hypothyroidism. J Pediatr 147:768–774
Corbetta C, Weber G, Cortinovis F et al. (2009) A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol 71(5):739–745
De Felice M, Di Lauro R (2004) Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 25(5):722–746
Grasberger H, Refetoff S (2011) Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr 23(4):421–428
De Marco G, Agretti P, Montanelli L et al. (2011) Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism. J Clin Endocrinol Metab 96(8):1335–1339
Gaudino R, Garel C, Czernichow P, Léger J (2005) Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study. Clin Endocrinol 62(4):444–448
Beck-Peccoz P, Rodari G, Giavoli C, Lania A (2017) Central hypothyroidism—a neglected thyroid disorder. Nat Rev Endocrinol 13(10):588–598
Olivieri A, Stazi MA, Mastroiacovo P et al. (Study Group for Congenital Hypothyroidism) (2002) A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991–1998). J Clin Endocrinol Metab 87(2):557–562
Italian National Registry of Infants with Congenital Hypothyroidism (INRICH). http://www.iss.it/rnic/. Accessed February 8, 2013
Hrytsiuk I, Gilbert R, Logan S et al. (2002) Starting dose of levothyroxine for the treatment of congenital hypothyroidism: a systematic review. Arch Pediatr Adolesc Med 146:485–491
Peroni E, Vigone MC et al. (2014) Congenital hypothyroidism treatment in infants: a comparative study between liquid and tablet formulations of levothyroxine. Horm Res Paediatr 81(1):50–54
Salerno M, Micillo M, Di Maio S et al. (2001) Longitudinal growth, sexual maturation and final height in patients with congenital hypothyroidism detected by neonatal screening. Eur J Endocrinol 145(4):377–383
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Gli autori Massimo Tonacchera, Tommaso Aversa e Filippo De Luca dichiarano di non avere conflitti di interesse.
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Tonacchera, M., Aversa, T. & De Luca, F. L’ipotiroidismo congenito. L'Endocrinologo 20, 121–126 (2019). https://doi.org/10.1007/s40619-019-00580-7
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DOI: https://doi.org/10.1007/s40619-019-00580-7