Incidence and clinical outcomes of congenital hypothyroidism: A retrospective study based on newborn screening data from Muğla Province, Türkiye
Abstract
Objective: To evaluate the incidence, clinical characteristics, and treatment outcomes of congenital hypothyroidism (CH) identified through neonatal screening in Muğla province, with a particular focus on differentiating between transient and permanent CH.
Methods: This retrospective study included 95 infants referred between 2020 and 2022 due to elevated thyroid-stimulating hormone (TSH) levels detected through heel-prick screening. Demographic, clinical, and biochemical data were collected. Infants were classified either as diagnosed and treated CH cases or as having transient TSH elevation without requiring treatment. Among the treated cases, CH was further categorized as transient or permanent based on follow-up findings. The predictive value of the levothyroxine (LT4) dose at six months of age was also analyzed.
Results: The average annual incidence of CH was 114.4 per 100,000 live births. Of the 95 infants, 33 (34.7%) received treatment for CH, while 62 (65.3%) had transient TSH elevation and did not require treatment. Among the treated cases, 19 (57.6%) were diagnosed with permanent CH and 14 (42.4%) with transient CH. The mean LT4 dose at six months was significantly lower in transient cases compared to permanent ones. LT4 dose cut-off value of 3.35 µg/kg/day at six months demonstrated high sensitivity and moderate specificity in predicting transient CH.
Conclusion: The incidence of CH in Muğla province exceeds global averages, with a notable proportion of transient cases. The LT4 dose at six months may serve as a useful marker for differentiating between transient and permanent CH, enabling more individualized follow-up and management strategies.
Keywords
Congenital Hypothyroidism neonatal screening levothyroxine transient hypothyroidism permanent hypothyroidism
Ethical Statement
This study was approved by the Ethics Committee of Muğla Sıtkı Koçman University Faculty of Medicine (Date: 05.12.2024, Protocol No: 240222, Decision No: 157). The study was conducted in accordance with the principles of the Declaration of Helsinki.
Supporting Institution
This study received no financial support from any funding agency or organization.
References
- 1Van Trotsenburg P, Stoupa A, Léger J, et al. Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology. Thyroid. 2021;31(3):387-419. doi:10.1089/thy.2020.0333
- Léger J, Olivieri A, Donaldson M, et al. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014;99(2):363-384. doi:10.1210/jc.2013-1891
- T.C. Sağlık Bakanlığı Halk Sağlığı Genel Müdürlüğü. Ulusal Yenidoğan Tarama Programı [İnternet]. Erişim: https://hsgm.saglik.gov.tr/tr/tarama-programlari/ntp.html. Erişim tarihi: 15 Nisan 2025.
- T.C. Sağlık Bakanlığı Halk Sağlığı Genel Müdürlüğü. TSH tarama ve yönlendirme akış şeması [İnternet]. Erişim: https://hsgm.saglik.gov.tr/depo/birimler/cocuk-ergen-sagligi-db/Programlar/TSH_Akis_Semasi.pdf. Erişim tarihi: 15 Nisan 2025.
- Yordam N, Calikoğlu AS, Hatun S, et al. Screening for congenital hypothyroidism in Turkey. Eur J Pediatr. 1995;154(8):614-616. doi:10.1007/BF02079061
- Simşek E, Karabay M, Safak A, Kocabay K. Congenital hypothyroidism and iodine status in Turkey: a comparison between the data obtained from an epidemiological study in school-aged children and neonatal screening for congenital hypothyroidism in Turkey. Pediatr Endocrinol Rev. 2003;1 Suppl 2:155-161.
- Dilli D, Özbaş S, Acıcan D, Yamak N, Ertek M, Dilmen U. Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey. J Clin Res Pediatr Endocrinol. 2013;5(2):73-79. doi:10.4274/Jcrpe.929
- Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States [published correction appears in Mol Genet Metab. 2008 May;94(1):140]. Mol Genet Metab. 2007;91(3):268-277. doi:10.1016/j.ymgme.2007.03.012
- Saleh DS, Lawrence S, Geraghty MT, et al. Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone. BMC Pediatr. 2016;16:24. doi:10.1186/s12887-016-0559-0
- Kara C, Günindi F, Can Yılmaz G, Aydın M. Transient congenital hypothyroidism in Turkey: An analysis on frequency and natural course. J Clin Res Pediatr Endocrinol. 2016;8(2):170-179. doi:10.4274/jcrpe.2345
- Asena M, Demiral M, Unal E, Öcal M, Demirbilek H, Özbek MN. Validity of six month L-Thyroxine dose for differentiation of transient or permanent congenital hypothyroidism. J Clin Res Pediatr Endocrinol. 2020;12(3):275-280. doi:10.4274/jcrpe.galenos.2020.2019.0170
- Oron T, Lazar L, Ben-Yishai S, et al. Permanent vs transient congenital hypothyroidism: Assessment of predictive variables. J Clin Endocrinol Metab. 2018;103(12):4428-4436. doi:10.1210/jc.2018-00362
- Rabbiosi S, Vigone MC, Cortinovis F, et al. Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation. J Clin Endocrinol Metab. 2013;98(4):1395-1402. doi:10.1210/jc.2012-3174
- Kang MJ, Chung HR, Oh YJ, Shim YS, Yang S, Hwang IT. Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. Pediatr Neonatol. 2017;58(5):442-448. doi:10.1016/j.pedneo.2017.01.002
- Türkiye İstatistik Kurumu (TÜİK). (2021, Mayıs 18). Birth Statistics, 2020 [Bülten No: 37229]. https://data.tuik.gov.tr/Bulten/Index?p=Birth-Statistics-2020-37229
- Türkiye İstatistik Kurumu (TÜİK). (2022, Mayıs 24). Birth Statistics, 2021 [Bülten No: 45514]. https://data.tuik.gov.tr/Bulten/Index?p=Birth-Statistics-2021-45514
- Türkiye İstatistik Kurumu (TÜİK). (2023, Mayıs 25). Birth Statistics, 2022 [Bülten No: 53720]. https://data.tuik.gov.tr/Bulten/Index?p=Birth-Statistics-2022-53720
- Mehran L, Khalili D, Yarahmadi S, et al. Evaluation of the congenital hypothyroidism screening programme in Iran: a 3-year retrospective cohort study. Arch Dis Child Fetal Neonatal Ed. 2019;104(2):F176-F181. doi:10.1136/archdischild-2017-313720
- Tanyeri D, Anık A, Cengiz A, Polat YD, Ünüvar T, Anık A. Etiological evaluation of congenital hypothyroidism in cases referred from the national screening program. The Journal of Pediatric Research. 2021;8(1):1-6.
- Özer Y, Anık A, Sayılı U, et al. High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients. J Endocrinol Invest. 2024;47(9):2213-2224. doi:10.1007/s40618-024-02348-9
- Oron T, Lazar L, Ben-Yishai S, et al. Permanent vs transient congenital hypothyroidism: assessment of predictive variables. J Clin Endocrinol Metab. 2018;103(12):4428-4436. doi:10.1210/jc.2018-00362
- Chen SH, Yang BC, Li JY, Xu P, Wang F. Diagnostic re-evaluation and predictors of congenital hypothyroidism with eutopic thyroid gland in Jiangxi, China. J Pediatr Endocrinol Metab. 2021;34(9):1139-1146. doi:10.1515/jpem-2020-0733
- Rose SR, Wassner AJ, Wintergerst KA, et al. Congenital hypothyroidism: screening and management. Pediatrics. 2023;151(1):e2022060420. doi:10.1542/peds.2022-060420
Konjenital hipotiroidi sıklığı ve klinik sonuçları: Muğla İlinde yenidoğan tarama verilerine dayalı retrospektif bir çalışma
Abstract
Amaç: Bu çalışmada, Muğla ilinde yenidoğan taraması ile saptanan konjenital hipotiroidi (KH) olgularının insidansı, klinik özellikleri ve tedavi sonuçları değerlendirilmiş; geçici ve kalıcı KH ayrımı üzerine odaklanılmıştır.
Yöntem: Bu retrospektif çalışmaya, 2020-2022 yılları arasında topuk kanı taramasında tiroid stimülan hormon (TSH) düzeyi yüksekliği nedeniyle yönlendirilen 95 bebek dahil edilmiştir. Demografik, klinik ve biyokimyasal veriler kaydedilmiştir. Bebekler, KH tanısı alıp tedavi başlananlar ve tedavi gerektirmeyen geçici TSH yüksekliği olanlar şeklinde iki gruba ayrılmıştır. Tedavi başlananlar ise takip sonuçlarına göre geçici veya kalıcı KH olarak sınıflandırılmıştır. Altıncı ayda uygulanan levotiroksin (LT4) dozunun ayırt edici değeri ROC analizi ile değerlendirilmiştir.
Bulgular: Yıllık ortalama KH insidansı 100.000 canlı doğumda 114,4 olarak saptanmıştır. 95 bebeğin 33’üne (%34,7) tedavi başlanmış, 62’si (%65,3) tedavi gerekmemiştir. Tedavi alanlar arasında 19’u (%57,6) kalıcı, 14’ü (%42,4) geçici KH olarak sınıflandırılmıştır. Altıncı ayda LT4 dozu geçici KH grubunda anlamlı olarak daha düşüktü. 3,35 µg/kg/gün kesim değeri, geçici KH’yi %100 duyarlılık ve %63,2 özgüllükle öngörmüştür (AUC: 0,925).
Sonuç: Muğla ilinde KH insidansı küresel ortalamanın üzerindedir ve önemli bir kısmı geçicidir. Altıncı aydaki LT4 dozu, geçici ve kalıcı KH ayrımında faydalı bir belirteç olabilir ve bireyselleştirilmiş takip stratejilerine katkı sağlayabilir.
Keywords
Konjenital hipotiroidi yenidoğan taraması levotiroksin geçici hipotiroidi kalıcı hipotiroidi
References
- 1Van Trotsenburg P, Stoupa A, Léger J, et al. Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology. Thyroid. 2021;31(3):387-419. doi:10.1089/thy.2020.0333
- Léger J, Olivieri A, Donaldson M, et al. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014;99(2):363-384. doi:10.1210/jc.2013-1891
- T.C. Sağlık Bakanlığı Halk Sağlığı Genel Müdürlüğü. Ulusal Yenidoğan Tarama Programı [İnternet]. Erişim: https://hsgm.saglik.gov.tr/tr/tarama-programlari/ntp.html. Erişim tarihi: 15 Nisan 2025.
- T.C. Sağlık Bakanlığı Halk Sağlığı Genel Müdürlüğü. TSH tarama ve yönlendirme akış şeması [İnternet]. Erişim: https://hsgm.saglik.gov.tr/depo/birimler/cocuk-ergen-sagligi-db/Programlar/TSH_Akis_Semasi.pdf. Erişim tarihi: 15 Nisan 2025.
- Yordam N, Calikoğlu AS, Hatun S, et al. Screening for congenital hypothyroidism in Turkey. Eur J Pediatr. 1995;154(8):614-616. doi:10.1007/BF02079061
- Simşek E, Karabay M, Safak A, Kocabay K. Congenital hypothyroidism and iodine status in Turkey: a comparison between the data obtained from an epidemiological study in school-aged children and neonatal screening for congenital hypothyroidism in Turkey. Pediatr Endocrinol Rev. 2003;1 Suppl 2:155-161.
- Dilli D, Özbaş S, Acıcan D, Yamak N, Ertek M, Dilmen U. Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey. J Clin Res Pediatr Endocrinol. 2013;5(2):73-79. doi:10.4274/Jcrpe.929
- Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States [published correction appears in Mol Genet Metab. 2008 May;94(1):140]. Mol Genet Metab. 2007;91(3):268-277. doi:10.1016/j.ymgme.2007.03.012
- Saleh DS, Lawrence S, Geraghty MT, et al. Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone. BMC Pediatr. 2016;16:24. doi:10.1186/s12887-016-0559-0
- Kara C, Günindi F, Can Yılmaz G, Aydın M. Transient congenital hypothyroidism in Turkey: An analysis on frequency and natural course. J Clin Res Pediatr Endocrinol. 2016;8(2):170-179. doi:10.4274/jcrpe.2345
- Asena M, Demiral M, Unal E, Öcal M, Demirbilek H, Özbek MN. Validity of six month L-Thyroxine dose for differentiation of transient or permanent congenital hypothyroidism. J Clin Res Pediatr Endocrinol. 2020;12(3):275-280. doi:10.4274/jcrpe.galenos.2020.2019.0170
- Oron T, Lazar L, Ben-Yishai S, et al. Permanent vs transient congenital hypothyroidism: Assessment of predictive variables. J Clin Endocrinol Metab. 2018;103(12):4428-4436. doi:10.1210/jc.2018-00362
- Rabbiosi S, Vigone MC, Cortinovis F, et al. Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation. J Clin Endocrinol Metab. 2013;98(4):1395-1402. doi:10.1210/jc.2012-3174
- Kang MJ, Chung HR, Oh YJ, Shim YS, Yang S, Hwang IT. Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. Pediatr Neonatol. 2017;58(5):442-448. doi:10.1016/j.pedneo.2017.01.002
- Türkiye İstatistik Kurumu (TÜİK). (2021, Mayıs 18). Birth Statistics, 2020 [Bülten No: 37229]. https://data.tuik.gov.tr/Bulten/Index?p=Birth-Statistics-2020-37229
- Türkiye İstatistik Kurumu (TÜİK). (2022, Mayıs 24). Birth Statistics, 2021 [Bülten No: 45514]. https://data.tuik.gov.tr/Bulten/Index?p=Birth-Statistics-2021-45514
- Türkiye İstatistik Kurumu (TÜİK). (2023, Mayıs 25). Birth Statistics, 2022 [Bülten No: 53720]. https://data.tuik.gov.tr/Bulten/Index?p=Birth-Statistics-2022-53720
- Mehran L, Khalili D, Yarahmadi S, et al. Evaluation of the congenital hypothyroidism screening programme in Iran: a 3-year retrospective cohort study. Arch Dis Child Fetal Neonatal Ed. 2019;104(2):F176-F181. doi:10.1136/archdischild-2017-313720
- Tanyeri D, Anık A, Cengiz A, Polat YD, Ünüvar T, Anık A. Etiological evaluation of congenital hypothyroidism in cases referred from the national screening program. The Journal of Pediatric Research. 2021;8(1):1-6.
- Özer Y, Anık A, Sayılı U, et al. High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients. J Endocrinol Invest. 2024;47(9):2213-2224. doi:10.1007/s40618-024-02348-9
- Oron T, Lazar L, Ben-Yishai S, et al. Permanent vs transient congenital hypothyroidism: assessment of predictive variables. J Clin Endocrinol Metab. 2018;103(12):4428-4436. doi:10.1210/jc.2018-00362
- Chen SH, Yang BC, Li JY, Xu P, Wang F. Diagnostic re-evaluation and predictors of congenital hypothyroidism with eutopic thyroid gland in Jiangxi, China. J Pediatr Endocrinol Metab. 2021;34(9):1139-1146. doi:10.1515/jpem-2020-0733
- Rose SR, Wassner AJ, Wintergerst KA, et al. Congenital hypothyroidism: screening and management. Pediatrics. 2023;151(1):e2022060420. doi:10.1542/peds.2022-060420
Details
| Primary Language | English |
|---|---|
| Subjects | Clinical Sciences (Other) |
| Journal Section | Research Articles |
| Authors | |
| Publication Date | June 30, 2025 |
| Submission Date | April 21, 2025 |
| Acceptance Date | June 22, 2025 |
| Published in Issue | Year 2025 Volume: 8 Issue: 2 |
The articles in the Journal of "Acta Medica Nicomedia" are open access articles licensed under a Creative Commons Attribution-ShareAlike 4.0 International License at the web address https://dergipark.org.tr/tr/pub/actamednicomedia