Outcomes of newborns screened for congenital hypothyroidism in Turkey – a single center experience

Ihsan Esen; Nilgun Eraslan; Deniz Okdemir

doi:10.1515/jpem-2024-0377

Article

Outcomes of newborns screened for congenital hypothyroidism in Turkey – a single center experience

Ihsan Esen , Nilgun Eraslan and Deniz Okdemir

Published/Copyright: November 14, 2024

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 38 Issue 1

Abstract

Objectives

It was aimed to investigate the outcomes of babies referred to a tertiary health center in Turkey for evaluation primary congenital hypothyroidism (CH) through newborn screening.

Methods

The hospital files of 328 newborns who were referred for CH from newborn screening between June 2013 and June 2020 were retrospectively reviewed. The newborns were evaluated with their clinical characteristics at admission, as well as their follow-up data and final diagnoses.

Results

Sixteen (4.9 %) newborns were diagnosed with transient neonatal hyperthyrotropinemia after follow-up. Treatment was initiated in 166 (50.6 %) of the cases with a diagnosis of CH. The median age at initiation of treatment was 17 days (5–69). Treatment was initiated in 88.3 % of the cases in the first month of the life. After at least 3 years of follow-up, 30/120 (20.0 %) of the cases were diagnosed with permanent CH and 11/30 (36.7 %) of them were diagnosed with thyroid dysgenesis. All of the cases who used >37.5 µg per day levothyroxine at the age of 1 or 2 years were diagnosed with permanent CH during their follow-up. For the prediction of transient CH, the sensitivity and specificity of levothyroxine doses of ≤25 µg per day at 1 year of age were calculated as 96.2 and 46.2 %, and for 2 years of age, the sensitivity and specificity were calculated as 97.8 and 65.2 %.

Conclusions

In this cohort, 10 % of all referrals result in permanent CH. Thyroid imaging with ultrasonography and levothyroxine dose during follow-up can be guiding in predicting permanent CH.

Keywords: congenital hypothyroidism; newborn screening; thyroid dysgenesis

Corresponding author: Ihsan Esen, Prof., Department of Pediatric Endocrinology, Chair of Pediatrics, Medical School of Firat University, Üniversite Mahallesi Yahya Kemal Caddesi No:25, 34410 Elazig, Türkiye, E-mail: esen_ihsan@yahoo.com

Ihsan Esen and Nilgun Eraslan contributed equally to this work and share first authorship.

Research ethics: Ethical approval for the study was obtained from the local Ethics Committee date 04.02.2021 and document ID 2021/02 -43. The study was conducted in accordance with the Declaration of Helsinki (as revised in 2013).
Informed consent: Not applicable.
Author contributions: All the authors contributed to the study’s conception and design. Material preparation, data collection, and analysis were performed by IE and NE. The first draft of the manuscript was written by IE, and all the authors commented on previous versions of the manuscript. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interest: The authors state no conflict of interest.
Research funding: None declared.
Data availability: The raw data can be obtained on request from the corresponding author.

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Received: 2024-08-07

Accepted: 2024-10-24

Published Online: 2024-11-14

Published in Print: 2025-01-29

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Articles in the same Issue

https://doi.org/10.1515/jpem-2024-0377

Keywords for this article

congenital hypothyroidism; newborn screening; thyroid dysgenesis