Research Article
Volume 9 Issue 8 - 2020
Evidence of Thyroid Autoimmunity in Patients with Congenital Hypothyroidism Due to Thyroid Dysgenesis or Dyshormonogenesis
Gutierrez Alvarez Ana and Shah Bina*
Department of Pediatrics, Division of Pediatric Endocrinology, New York University School of Medicine, New York, NY, USA
*Corresponding Author: Shah Bina, Department of Pediatrics, Division of Pediatric Endocrinology, New York University School of Medicine, New York, NY, USA.
Received: June 28, 2020; Published: July 11, 2020


Background: Congenital hypothyroidism (CH) is caused by thyroid dysgenesis (TD) or thyroid dyshormonogenesis (TDH) which are not autoimmune conditions. TD can be sporadic or rarely due to genetic mutations. TDH occurs due to defects in thyroid hormone synthesis. The coexistence of autoimmunity in TD and TDH cases has rarely been described.

Objective: To evaluate evidence of autoimmunity in patients with TD and TDH. To assess the impact of autoimmunity on a successful trial off in TDH patients after 3 years of age.

Methods: Retrospective chart review of patients diagnosed with CH. Demographics, family history, biochemical (TSH and FT4) and radiologic studies to evaluate thyroid function were reviewed. Presence of thyroid antibodies (TAb) at time of diagnosis and/or at ≥ 3 years of age in CH patients were assessed. All variables were analyzed and compared in both groups (TD and TDH).

Results: A total of 50 patients were included, 38 (76%) with TDH and 12 (24%) with TD. Among all cases, 11 patients (22%) had positive TAb. In TDH group, 9 subjects had positive TAb (5 with TgAb, 4 with TPOAb). In TD group, 2 patients were demonstrated to have thyroid autoimmunity (TPOAb in a patient with athyreosis and TgAb in a patient with ectopic thyroid).

Conclusion: A subset of patients with CH can have presence of TAb and may contribute to continuous need for TRT. Disturbances in thyroid structure or function may predispose to development of thyroid autoimmunity in CH. Future studies should examine this relationship using a prospective design.

Keywords: Congenital Hypothyroidism; Thyroid Dysgenesis; Thyroid Dyshormonogenesis; Thyroid Antibodies; Thyroperoxidase Antibody; Thyroglobulin Antibody


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Citation: Gutierrez Alvarez Ana and Shah Bina. “Evidence of Thyroid Autoimmunity in Patients with Congenital Hypothyroidism Due to Thyroid Dysgenesis or Dyshormonogenesis”. EC Paediatrics 9.8 (2020): 124-132.

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