Problemi speciali
Disordini tiroidei nel bambino e nell’adolescente con trisomia 21
Thyroid function disorders in the child and adolescent with trisomy 21
Silvia Molinari, Chiara Fossati, Alessandra Gazzarri, Alessandra Lazzerotti, Silvia Barzaghi, Laura Ocello, Carla Grimaldi, Maria Laura Nicolosi, Andrea Biondi, Alessandro Cattoni
Fondazione IRCCS “San Gerardo dei Tintori”, Universitŕ di Milano-Bicocca, Monza
Giugno 2023 - pagg. 374 -380 | DOI: 10.53126/MEB42374
Abstract
Thyroid function disorders are the most frequently detected medical complication among patients with trisomy 21, with a reported prevalence ranging from 4-8% in childhood to 50% or more in adulthood. Over 1% of newborns with Down syndrome show clinical and/or biochemical signs consistent with congenital hypothyroidism, which is generally promptly identified by means of the neonatal screening. 30% of patients are diagnosed with transient congenital hypothyroidism, while 70% show a lifelong need for hormonal replacement therapy with levothyroxine. Moreover, non-autoimmune subclinical hypothyroidism is the most frequent finding, with reported prevalence ranging from 23 to 60%. It is still controversial whether subclinical hypothyroidism can be labelled as a pathological condition or the expression of a mere asymptomatic upwards shift of TSH, with no clinical impact. In addition, syndrome-related abnormalities in the mechanisms underlying immune tolerance result in a greater occurrence of autoimmune disorders. Graves’ disease and autoimmune hypothyroidism in Hashimoto thyroiditis are experienced by almost 30% of patients with trisomy 21. Finally, it is frequent that the latter clinical picture switches into hyperthyroidism and vice versa in an unpredictable clinical continuum. Given the increased lifelong risk of experiencing thyroid function disorders in children and adolescents with trisomy 21, a systematic periodic clinical and biochemical assessment is recommended to promptly detect and possibly treat pathological conditions.
Riassunto
I disordini tiroidei rappresentano una delle complicanze mediche piů frequentemente riscontrate nei pazienti con trisomia 21, con una prevalenza che, in progressivo incremento con l’aumentare dell’etŕ, passa dal 4-8% nel bambino a oltre il 50% nei soggetti adulti. Circa l’1% di tutti i neonati con trisomia 21 presenta segni clinici e biochimici compatibili con un quadro di ipotiroidismo congenito, in genere precocemente identificato e trattato grazie allo screening neonatale. Circa il 30% della totalitŕ dei quadri risulta transitorio, mentre il 70% richiede la somministrazione di levotiroxina quod vitam.
Nelle etŕ successive, l’ipotiroidismo subclinico non autoimmune rappresenta il reperto piů frequente, con prevalenze riportate tra il 23% e il 60%. Č ampiamente dibattuto se tale quadro rappresenti una reale condizione nosografica o se sia la mera espressione di uno shift in senso ipertireotropinemico dei test di funzione tiroidea, senza alcun correlato clinico associato. Anomalie nei meccanismi di tolleranza immunologica esitano, inoltre, in una incrementata incidenza di patologie autoimmuni nei pazienti con trisomia 21, tra cui annoveriamo l’ipotiroidismo nell’ambito della tiroidite di Hashimoto e l’ipertiroidismo autoimmune, o morbo di Graves. Tali condizioni non rappresentano, nel paziente sindromico, entitŕ cliniche compartimentalizzate, ma possono costituire l’una l’evoluzione temporale dell’altra. In considerazione della predisposizione all’insorgenza di disordini tiroidei, i pazienti con trisomia 21 devono essere sottoposti a monitoraggio periodico dei parametri di funzione tiroidea, al fine di identificare eventuali derive patologiche.
Parole chiave
Classificazione MeSH
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