Gerdi Tuli1,2, Jessica Munarin3,4, Daniele Tessaris3,4, Patrizia Matarazzo3,4, Silvia Einaudi3,4, Luisa de Sanctis3,4. 1. Department of Pediatric Endocrinology, Regina Margherita Children's Hospital, City of Health and Science University Hospital of Turin, Turin, Italy. gerdi.tuli@unito.it. 2. Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy. gerdi.tuli@unito.it. 3. Department of Pediatric Endocrinology, Regina Margherita Children's Hospital, City of Health and Science University Hospital of Turin, Turin, Italy. 4. Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy.
Abstract
PURPOSE: The incidence of primary congenital hypothyroidism (CH) has grown progressively and literature data indicate an association between CH and congenital malformations. The purpose of this study is to establish the current incidence of CH in the Italian Region of Piedmont and verify the relationship between CH diagnostic categories and associated malformations. METHODS: The biochemical and clinical data of 105 newborns with CH diagnosed in the period January 2014 to December 2019 were analyzed. RESULTS: The incidence of CH in the Italian Piedmont region in the 2014-2019 period increased to 1:1090. Thyroid dysgenesis was responsible for 47.6% (50/105) of all cases, with agenesis in 14.3% (15/105), while ectopia and hypoplasia in 23.8% (25/105) and 9.5% (10/105) of the cases, respectively; dyshormonogenesis defects were found in 52.4% (55/105) of cases. Congenital extra-thyroid anomalies were identified in 33/105 (31.4%) of newborns with CH and mainly involve the cardiac system (17/85, 16.1%), urogenital tract (7/85, 6.7%), gastrointestinal tract (5/105, 4.8%), and the musculoskeletal system (5/105, 4.8%). The highest rate of malformations was observed in patients with thyroid agenesis and dyshormonogenesis, respectively, in 53.5% and 36.4% of cases, while in the presence of thyroid ectopia and hypoplasia, the rate was 12% and 20%, respectively, (p = 0.03). CONCLUSION: In the Italian region of Piedmont, the incidence of primary CH has been increased over time, with a variation in the percentage of the different forms of CH. Congenital malformations, especially affecting the cardiovascular, urogenital, gastrointestinal, and musculoskeletal systems, seem to be mainly associated with thyroid agenesis or defects in hormonogenesis.
PURPOSE: The incidence of primary congenital hypothyroidism (CH) has grown progressively and literature data indicate an association between CH and congenital malformations. The purpose of this study is to establish the current incidence of CH in the Italian Region of Piedmont and verify the relationship between CH diagnostic categories and associated malformations. METHODS: The biochemical and clinical data of 105 newborns with CH diagnosed in the period January 2014 to December 2019 were analyzed. RESULTS: The incidence of CH in the Italian Piedmont region in the 2014-2019 period increased to 1:1090. Thyroid dysgenesis was responsible for 47.6% (50/105) of all cases, with agenesis in 14.3% (15/105), while ectopia and hypoplasia in 23.8% (25/105) and 9.5% (10/105) of the cases, respectively; dyshormonogenesis defects were found in 52.4% (55/105) of cases. Congenital extra-thyroid anomalies were identified in 33/105 (31.4%) of newborns with CH and mainly involve the cardiac system (17/85, 16.1%), urogenital tract (7/85, 6.7%), gastrointestinal tract (5/105, 4.8%), and the musculoskeletal system (5/105, 4.8%). The highest rate of malformations was observed in patients with thyroid agenesis and dyshormonogenesis, respectively, in 53.5% and 36.4% of cases, while in the presence of thyroid ectopia and hypoplasia, the rate was 12% and 20%, respectively, (p = 0.03). CONCLUSION: In the Italian region of Piedmont, the incidence of primary CH has been increased over time, with a variation in the percentage of the different forms of CH. Congenital malformations, especially affecting the cardiovascular, urogenital, gastrointestinal, and musculoskeletal systems, seem to be mainly associated with thyroid agenesis or defects in hormonogenesis.
Authors: Antonella Olivieri; Caterina DI Cosmo; Simona DE Angelis; Roberto DA Cas; Paolo Stacchini; Augusto Pastorelli; Paolo Vitti Journal: Minerva Med Date: 2017-01-12 Impact factor: 4.806
Authors: A Olivieri; M A Stazi; P Mastroiacovo; C Fazzini; E Medda; A Spagnolo; S De Angelis; M E Grandolfo; D Taruscio; V Cordeddu; M Sorcini Journal: J Clin Endocrinol Metab Date: 2002-02 Impact factor: 5.958
Authors: Julia Thomann; Sascha R Tittel; Egbert Voss; Rudolf Oeverink; Katja Palm; Susanne Fricke-Otto; Klaus Kapelari; Reinhard W Holl; Joachim Woelfle; Markus Bettendorf Journal: Int J Neonatal Screen Date: 2021-02-12