Background Congenital hypothyroidism (CH) is a clinically significant condition that, if not diagnosed and treated promptly, can lead to delays in neurocognitive development and impair physical growth. Thyroid hormone is essential for brain development in utero and during the early years of life, for normal physical growth in childhood, and for normal metabolism throughout life; a deficiency at birth can result in irreversible damage. It is crucial to promote awareness of neonatal screening, which enables the early identification of this condition and the initiation of effective treatment, thus facilitating better developmental outcomes. Objectives The study aims to analyze the epidemiology of CH in the Marche Region from 2011 to 2022, assessing the prevalence and incidence of the condition. It explores the pregnancy and perinatal characteristics of neonates, investigating possible correlations between maternal complications and the diagnosis of congenital hypothyroidism, and examines the influence of maternal thyroid diseases on neonatal outcomes and complications during pregnancy and childbirth to improve the clinical management of high-risk pregnancies. Methods The analysis was conducted at the Regional Reference Center for Congenital Hypothyroidism in Marche, focusing on neonates who tested positive in screening from 2011 to 2022. Data were collected from clinical records and included information on sociodemographic variables, pregnancy and perinatal characteristics, and details on hypothyroidism. The analyses evaluated the correlation between agenesis/dysgenesis of the gland and maternal conditions, such as pregnancy complications and neonatal auxological data, as well as the influence of maternal thyroid diseases on neonatal outcomes. Results The epidemiology of CH in the Marche Region between 2011 and 2022 revealed 282 diagnosed cases out of 133,383 live births, with an incidence of 0.21. Male patients accounted for 61.35%, with a geographic distribution predominantly in the provinces of Ancona and Macerata, reflecting the higher population density in these areas. Among patients with CH, 23.16% fell into the small for gestational age (SGA) category. Neonatal jaundice (15.33%) and respiratory distress (11.11%) were common. Additionally, 23.75% of neonates presented with malformations, with a prevalence of congenital heart diseases. Neonates with agenesis/dysgenesis of the thyroid gland had a longer gestation period (40 weeks) and higher birth weight compared to those with the gland in situ. Infants diagnosed with agenesis/dysgenesis initiated therapy earlier and with higher doses. Among the mothers of neonates with congenital hypothyroidism, 27.3% had thyroid diseases, with no significant differences observed compared to healthy mothers regarding perinatal or auxological variables. The average TSH levels in neonates of mothers with thyroid diseases were slightly higher, but not statistically significant. Conclusion This study underscores the importance of close monitoring in neonates with thyroid agenesis or dysgenesis, who require urgent therapeutic interventions and may have potential long-term implications. Exploring the relationships between maternal complications and the diagnosis of CH, as well as the influence of maternal thyroid diseases on neonatal outcomes and complications during pregnancy and childbirth, is crucial for improving the clinical management of high-risk pregnancies. Given the relevance of CH and the effectiveness of neonatal screening, it is essential to promote awareness of it, as early diagnosis allows for timely initiation of therapy.
Introduzione L'ipotiroidismo congenito (IC) è una condizione clinicamente rilevante che, se non diagnosticata e trattata tempestivamente, può causare ritardi nello sviluppo neurocognitivo e compromettere la crescita fisica. L'ormone tiroideo è essenziale per lo sviluppo cerebrale in utero e nei primi anni di vita, per una normale crescita fisica nell’infanzia e per un normale metabolismo durante tutta la vita; un deficit alla nascita può portare a danni irreversibili. È fondamentale promuovere la sensibilizzazione verso lo screening neonatale, che permette di individuare la condizione sin dalla nascita e avviare un trattamento efficace, garantendo migliori outcome di sviluppo. Obiettivi Lo studio si propone di analizzare l'epidemiologia dell’IC nella Regione Marche dal 2011 al 2022, valutando la prevalenza e l'incidenza della patologia. Esplora le caratteristiche gravidiche e perinatali dei neonati, indagando le possibili correlazioni tra complicanze materne e diagnosi di ipotiroidismo congenito, e verifica l'influenza delle patologie tiroidee materne sugli esiti neonatali e sulle complicanze durante la gravidanza e il parto, al fine di migliorare la gestione clinica delle gravidanze a rischio. Materiali e metodi L’analisi è stata condotta presso il Centro Regionale di Riferimento per l'Ipotiroidismo Congenito nelle Marche, e ha esaminato neonati positivi allo screening tra il 2011 e il 2022. I dati sono stati raccolti da cartelle cliniche e includevano informazioni su variabili sociodemografiche, caratteristiche gravidiche e perinatali, e dettagli sull'ipotiroidismo. Le analisi hanno valutato la correlazione tra agenesia/disgenesia della ghiandola e condizioni materne, come patologie della gravidanza e dati auxologici del neonato, e l'influenza delle patologie tiroidee materne sugli esiti neonatali. Risultati L'epidemiologia dell’IC nella Regione Marche tra il 2011 e il 2022 ha evidenziato 282 casi diagnosticati su 133.383 nati vivi, con un'incidenza dello 0,21. Il 61,35% dei pazienti è di sesso maschile, con una distribuzione geografica predominante nelle province di Ancona e Macerata, riflettendo la maggiore densità di popolazione in queste aree. Il 23,16% dei nei pazienti con IC rientrano nella categoria l SGA (piccolo per l'età gestazionale. L'ittero neonatale (15,33%) e il distress respiratorio (11,11%) sono stati comuni. Il 23,75% dei neonati ha presentato malformazioni, con una prevalenza di cardiopatie. È stata riscontrata una gestazione più lunga (40 settimane) e un peso alla nascita superiore nei neonati con agenesia/disgenesia della ghiandola tiroidea rispetto a quelli con ghiandola in sede. I neonati con diagnosi di agenesia/disgenesia hanno iniziato la terapia prima e con dosi più elevate. Il 27,3% delle madri dei neonati con ipotiroidismo congenito presentava patologie tiroidee, senza differenze significative rispetto alle madri sane per quanto riguarda le variabili perinatali o auxologiche. I livelli medi di TSH nei neonati di madri con patologie tiroidee erano leggermente superiori, ma senza significatività statistica. Conclusione Lo studio sottolinea l'importanza di un monitoraggio attento nei neonati con agenesia o disgenesia tiroidea, che richiedono interventi terapeutici urgenti e presentano potenziali implicazioni a lungo termine. È interessante esplorare le relazioni tra complicanze materne e la sua diagnosi, così come l'influenza delle patologie tiroidee materne sugli esiti neonatali e sulle complicanze durante la gravidanza e il parto, per migliorare la gestione clinica delle gravidanze a rischio. Considerata la rilevanza dell'IC e l'efficacia dello screening neonatale, è fondamentale promuovere la sensibilizzazione verso di esso, poiché consente di diagnosticare la condizione sin dalla nascita e avviare tempestivamente la terapia.
Ipotiroidismo congenito nella regione Marche nell’ultimo decennio: epidemiologia, presentazione clinica e influenza dei fattori prenatali
CERESI, MARGHERITA
2023/2024
Abstract
Background Congenital hypothyroidism (CH) is a clinically significant condition that, if not diagnosed and treated promptly, can lead to delays in neurocognitive development and impair physical growth. Thyroid hormone is essential for brain development in utero and during the early years of life, for normal physical growth in childhood, and for normal metabolism throughout life; a deficiency at birth can result in irreversible damage. It is crucial to promote awareness of neonatal screening, which enables the early identification of this condition and the initiation of effective treatment, thus facilitating better developmental outcomes. Objectives The study aims to analyze the epidemiology of CH in the Marche Region from 2011 to 2022, assessing the prevalence and incidence of the condition. It explores the pregnancy and perinatal characteristics of neonates, investigating possible correlations between maternal complications and the diagnosis of congenital hypothyroidism, and examines the influence of maternal thyroid diseases on neonatal outcomes and complications during pregnancy and childbirth to improve the clinical management of high-risk pregnancies. Methods The analysis was conducted at the Regional Reference Center for Congenital Hypothyroidism in Marche, focusing on neonates who tested positive in screening from 2011 to 2022. Data were collected from clinical records and included information on sociodemographic variables, pregnancy and perinatal characteristics, and details on hypothyroidism. The analyses evaluated the correlation between agenesis/dysgenesis of the gland and maternal conditions, such as pregnancy complications and neonatal auxological data, as well as the influence of maternal thyroid diseases on neonatal outcomes. Results The epidemiology of CH in the Marche Region between 2011 and 2022 revealed 282 diagnosed cases out of 133,383 live births, with an incidence of 0.21. Male patients accounted for 61.35%, with a geographic distribution predominantly in the provinces of Ancona and Macerata, reflecting the higher population density in these areas. Among patients with CH, 23.16% fell into the small for gestational age (SGA) category. Neonatal jaundice (15.33%) and respiratory distress (11.11%) were common. Additionally, 23.75% of neonates presented with malformations, with a prevalence of congenital heart diseases. Neonates with agenesis/dysgenesis of the thyroid gland had a longer gestation period (40 weeks) and higher birth weight compared to those with the gland in situ. Infants diagnosed with agenesis/dysgenesis initiated therapy earlier and with higher doses. Among the mothers of neonates with congenital hypothyroidism, 27.3% had thyroid diseases, with no significant differences observed compared to healthy mothers regarding perinatal or auxological variables. The average TSH levels in neonates of mothers with thyroid diseases were slightly higher, but not statistically significant. Conclusion This study underscores the importance of close monitoring in neonates with thyroid agenesis or dysgenesis, who require urgent therapeutic interventions and may have potential long-term implications. Exploring the relationships between maternal complications and the diagnosis of CH, as well as the influence of maternal thyroid diseases on neonatal outcomes and complications during pregnancy and childbirth, is crucial for improving the clinical management of high-risk pregnancies. Given the relevance of CH and the effectiveness of neonatal screening, it is essential to promote awareness of it, as early diagnosis allows for timely initiation of therapy.| File | Dimensione | Formato | |
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Descrizione: Congenital Hypothyroidism in the Marche region over the last decade: epidemiology, clinical presentation and prenatal factors influence
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https://hdl.handle.net/20.500.12075/19527