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[Re-evaluation of the diagnosis in congenital hypothyroidism]
P Costa1, L Sambuco, A Olivieri
1Istituto di Puericultura, Università degli Studi La Sapienza, Roma.
Insights
Routine newborn screening for congenital hypothyroidism (CH) in Italy aids diagnosis. Reevaluation identified transient hypothyroidism in infants, highlighting neonatal, maternal, and environmental factors.
Area of Science:
- Endocrinology
- Pediatrics
- Neonatology
Background:
- Newborn screening for congenital hypothyroidism (CH) is standard in Italy.
- Screening provides epidemiological data and aids diagnosis and treatment of CH infants.
- Transient disorders of thyroid function require diagnostic confirmation at 2-3 years of age.
Purpose of the Study:
- To report results of diagnostic reevaluation in children with CH.
- To identify transient hypothyroidism (TH) and permanent CH.
- To explore factors contributing to the etiopathogenesis of TH.
Main Methods:
- Retrospective analysis of 23 out of 184 CH children.
- Follow-up at the CH center of the University of Rome "La Sapienza".
- Diagnosis reevaluation at 2-3 years of life for children with initially undetermined hypothyroidism.
Main Results:
- Eleven of 23 reevaluated children had transient hypothyroidism (TH).
- Permanent CH was confirmed in the remaining 12 children.
- Factors associated with TH included low gestational age (4/11), maternal autoimmune thyroiditis (1/11), and iodine deficiency (2/11).
Conclusions:
- Diagnosis reevaluation is crucial for identifying transient thyroid disorders in infancy.
- Neonatal, maternal, and environmental factors play a significant role in the etiopathogenesis of transient hypothyroidism.
- Routine screening and follow-up protocols are essential for optimal management of CH.
Abstract:
Newborn screening for congenital hypothyroidism (CH) has become routine in Italy. It provided new information regarding the epidemiology, diagnosis and treatment of CH infants and allowed to identify transient disorders of thyroid function in infancy. In fact, when the permanence of hypothyroidism has not been established in the newborn period, a confirmation of the diagnosis at 2-3 years of life should be performed. In this study results regarding the diagnosis reevaluation performed in 23 out of 184 CH children followed at the follow-up center for CH of the University of Rome "La Sapienza", are reported. Eleven of 23 reevaluated children had transient hypothyroidism (TH) and permanent CH was confirmed in the others. Four of the 11 TH children had law gestational age at birth, 1 had high antithyroid peroxidase titre due to maternal autoimmune thyroiditis and 2 were resident in iodine deficient areas. Our results show the importance of diagnosis reevaluation to identify transient disorders of thyroid function in infancy and confirm the role of neonatal, maternal and environmental factors in the etiopathogenesis of TH.