Timing, prevalence, and dynamics of thyroid disorders in children and adolescents affected with Down syndrome

Valeria Calcaterra 1 , 2 , Erica Crivicich 1 , 2 , Annalisa De Silvestri 3 , Rossella Amariti 1 , 2 , Andrea Martina Clemente 1 , 2 , Francesco Bassanese 1 , 2 , Corrado Regalbuto 1 , 2 , Federica Vinci 1 , 2 , Riccardo Albertini 4 ,  and Daniela Larizza 1 , 2
  • 1 Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy
  • 2 Pediatric Endocrinology Unit, Department of Maternal and Children’s Health, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
  • 3 Biometry & Clinical Epidemiology, Scientific Direction, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
  • 4 Laboratory of Clinical Chemistry, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Valeria Calcaterra
  • Corresponding author
  • Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy
  • Pediatric Endocrinology Unit, Department of Maternal and Children’s Health, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
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, Erica Crivicich
  • Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy
  • Pediatric Endocrinology Unit, Department of Maternal and Children’s Health, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
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, Annalisa De Silvestri
  • Biometry & Clinical Epidemiology, Scientific Direction, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
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, Rossella Amariti
  • Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy
  • Pediatric Endocrinology Unit, Department of Maternal and Children’s Health, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
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, Andrea Martina Clemente
  • Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy
  • Pediatric Endocrinology Unit, Department of Maternal and Children’s Health, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
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, Francesco Bassanese
  • Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy
  • Pediatric Endocrinology Unit, Department of Maternal and Children’s Health, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
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, Corrado Regalbuto
  • Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy
  • Pediatric Endocrinology Unit, Department of Maternal and Children’s Health, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
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, Federica Vinci
  • Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy
  • Pediatric Endocrinology Unit, Department of Maternal and Children’s Health, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
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, Riccardo Albertini
  • Laboratory of Clinical Chemistry, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
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and Daniela Larizza
  • Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy
  • Pediatric Endocrinology Unit, Department of Maternal and Children’s Health, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
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Abstract

Objectives

Limited data on the evolution of thyroid disorders (TD) in Down syndrome (DS) are available. We characterized the timing, prevalence, and dynamics of TD in patients with DS during a long-term follow-up.

Methods

We retrospectively evaluated 91 children and adolescents with DS (12.5 ± 8.3; follow-up 7.5 ± 6.2). Children were monitored at birth, 6, and 12 months of age and twice a year thereafter. Thyroid status and autoimmunity were periodically investigated.

Results

TD were detected in 73.6% of patients, in particular congenital hypothyroidism (CH), autoimmune thyroid diseases (ATD) and subclinical hypothyroidism (SH) were recorded in 16.4, 31.8, and 25.3%, respectively. CH was diagnosed at newborn screening in 86.7% of cases and in the first 6 months of life in the remaining 13.3%; the condition was persistent in 61.5% of patients. In more than 30% of CH cases, glandular hypoplasia was also revealed. In the ATD group, 63.1% of patients with Hashimoto’s disease (HD, 82.6%) were treated with levothyroxine and subjects with Graves’ Disease (GD, 17.4%) started therapy with methimazole. DS with SH were treated in 42.1% of cases. A thyroid hypogenic echopattern, without autoantibody positivity was identified in 27.6% of SH patients.

Conclusions

The high prevalence and evolution of TD in SD requires frequent monitoring starting in the first months of life. CH can be misdiagnosed at screening. In DS subjects, there is a high prevalence of ATD and non-autoimmune diseases with early antibody-negative phases should not be excluded.

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