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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

Y. Ozer, A. Anik, Uğurcan Sayılı, U. Tercan, R. Deveci Sevim, S. Gunes, M. Buhur Pirimoglu, S. Elmaogullari, İsmail Dündar, D. Okdemir, O. Besci, A. Jalilova, D. Cicek, B. Singin, S. E. Ulu, H. Turan, S. Albayrak, Z. Kocabey Sutcu, B. S. Eklioglu, Erdal Eren, S. Cetinkaya, S. Savas-Erdeve, I. Esen, K. Demir, S. Darcan, N. Hatipoglu, M. Parlak, F. Dursun, Z. Siklar, M. Berberoglu, M. Keskin, Zerrin Orbak, B. Tezel, E. Yuruker, B. Keskinkilic, F. Kara, E. Erginoz, F. Darendeliler, Saadet Olcay Evliyaoğlu

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION Cilt 47 · Sayı 9 · ss. 2213–2224 · 01.09.2024
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Özet

Purpose We aimed to determine the frequency of transient congenital hypothyroidism (TCH) in 17 participating centers in Turkiye, evaluate the etiological distribution in permanent congenital hypothyroidism (PCH) cases, and investigate the role of laboratory and clinical findings in predicting TCH. Methods This retrospective observational multicenter study included patients from 17 pediatric endocrinology centers identified by "National Newborn Screening Program" (NNSP) who were born in 2015 and followed for 6 years. Demographic, clinical, and laboratory information of the cases were compiled through the database http://cedd.saglik-network.org (CEDD-NET). Results Of the 239 cases initially treated for CH, 128 (53.6%) were determined as transient in whom a trial of levothyroxine (LT4) withdrawal was performed at a median age of 36 (34-38) months. Among the patients with PCH (n = 111), thyroid dysgenesis was diagnosed in 39.6% (n = 44). The predictive factors for TCH were: LT4 dose at the withdrawal of treatment, and initial newborn blood screening (NBS)-TSH level. Based on the receiver operating characteristic (ROC) curve analysis to predict optimal cut-offs for TCH predictors, LT4 dose < 2.0 mu g/kg/day at treatment discontinuation was predictive for TCH and was associated with 94.5% specificity and 55.7% sensitivity, with an area under the curve (AUC) of 0.802. The initial NBS-TSH level value < 45 mu IU/mL was predictive for TCH with 93.1% specificity and 45.5% sensitivity, with an AUC of 0.641. In patients with eutopic thyroid gland only LT4 dose < 1.1 mu g/kg/day at withdrawal time was predictive for TCH with 84.7% sensitivity and 40.4% specificity, with an AUC of 0.750. Conclusion According to our national follow-up data, the frequency of TCH was 53.6%. We determined the LT4 dose < 2.0 mu g/kg/day at discontinuation of treatment and the initial NBS-TSH level < 45 mu IU/mL as the best cut-off limits to predict TCH.

Anahtar kelimeler

ETIOLOGY frequency Neonatal screening Permanent congenital hypothyroidism Thyroxine Transient congenital hypothyroidism

Atıf için künye

Ozer, Y., Anik, A., Sayılı, U., Tercan, U., Sevim, R. D., Gunes, S., Pirimoglu, M. B., Elmaogullari, S., Dündar, İ., Okdemir, D., Besci, O., Jalilova, A., Cicek, D., Singin, B., Ulu, S. E., Turan, H., Albayrak, S., Sutcu, Z. K., Eklioglu, B. S., … Evliyaoğlu, S. O. (2024). 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. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 47(9), 2213–2224. https://doi.org/10.1007/s40618-024-02348-9

BibTeX
@article{ozer2024-223590,
  author = {Ozer, Y. and Anik, A. and Sayılı, Uğurcan and Tercan, U. and Sevim, R. Deveci and Gunes, S. and Pirimoglu, M. Buhur and Elmaogullari, S. and Dündar, İsmail and Okdemir, D. and Besci, O. and Jalilova, A. and Cicek, D. and Singin, B. and Ulu, S. E. and Turan, H. and Albayrak, S. and Sutcu, Z. Kocabey and Eklioglu, B. S. and Eren, Erdal and Cetinkaya, S. and Savas-Erdeve, S. and Esen, I. and Demir, K. and Darcan, S. and Hatipoglu, N. and Parlak, M. and Dursun, F. and Siklar, Z. and Berberoglu, M. and Keskin, M. and Orbak, Zerrin and Tezel, B. and Yuruker, E. and Keskinkilic, B. and Kara, F. and Erginoz, E. and Darendeliler, F. and Evliyaoğlu, Saadet Olcay},
  title = {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},
  journal = {JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION},
  year = {2024},
  volume = {47},
  number = {9},
  pages = {2213--2224},
  issn = {0391-4097},
  doi = {10.1007/s40618-024-02348-9},
  url = {https://akademik.atauni.edu.tr/yayinlar/223590-high-frequency-of-transient-congenital-hypothyroidism-among-infants-referred-for}
}