ESPEYB21 13. Global Health for the Paediatric Endocrinologist Endocrinology (7 abstracts)
13.12. 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
Özer Y , Anık A , Sayılı U , Tercan U , Deveci Sevim R , Güneş S , Buhur Pirimoğlu M , Elmaoğulları S , Dündar I , Ökdemir D , Besci Ö , Jalilova A , Çiçek D , Singin B , Ulu ŞE , Turan H , Albayrak S , Kocabey Sütçü Z , Eklioğlu BS , Eren E , Çetinkaya S , Savaş-Erdeve Ş , Esen I , Demir K , Darcan Ş , Hatipoğlu N , Parlak M , Dursun F , Şıklar Z , Berberoğlu M , Keskin M , Orbak Z , Tezel B , Yürüker E , Keskinkılıç B , Kara F , Erginöz E , Darendeliler F & Evliyaoğlu O
J Endocrinol Invest. 2024; 47(9):2213-2224. doi: 10.1007/s40618-024-02348-9. PMID: 38546931.
Brief Summary: This retrospective, multicenter study examined patients who were diagnosed with congenital hypothyroidism (CH) through the newborn screening (NSP) program in Turkey. It assessed the prevalence of temporary congenital hypothyroidism (TCH), examined the causes of permanent congenital hypothyroidism (PCH), and identified laboratory and clinical indicators to distinguish TCH and PCH.
Congenital hypothyroidism (CH), the most prevalent endocrine disorder in children, affects around 1:2000 individuals in Western populations 1. The incidence in Turkey is 1:2183 2. This study included 239 children, born in 2015 and were diagnosed with CH via NSP. They were tracked for a minimum of 6 years at 17 different centers. PCH was identified in 46.4% of the patients, of whom 39.6% had dysgenesis and 60.4% had dishormonogenesis. Identified predictive parameters for TCH were low serum TSH < 100 μIU/mL at diagnosis (specificity: 81.5%, sensitivity: 41.3%), low TSH < 45 μIU/mL in the first heel blood sample taken for NSP (specificity: 93.1%, sensitivity: 45.5%), and low LT4 dose < 2 μg/kg/day at the treatment cessation period (specificity: 94.5%, sensitivity: 55.7%). In patients with eutopic glands, the only predictive parameter was low LT4 dose <1.1 μg/kg/day at treatment cessation (sensitivity: 84.7%, specificity: 40.4%).
The study’s limitations are the absence of perchlorate discharge testing or genetic studies in elucidating the etiology of PCH. However, as there is still ongoing discussion over when exactly to stop LT4 medication, it is helpful to highlight the predictive value of TSH levels in the initial heel puncture sample and the LT4 dose when treatment is being discontinued. Lowering the LT4 dose threshold for identifying TCH in patients with eutopic glands enhances the existing evidence.
References: 1. Mitchell ML, Hsu HW, Sahai I; Massachusetts Pediatric Endocrine Work Group. The increased incidence of congenital hypothyroidism: fact or fancy? Clin Endocrinol (Oxf). 2011 Dec;75(6):806-10. doi: 10.1111/j.1365-2265.2011.04128.x. PMID: 21623857.2. Ataş B, Altunhan H, Ata E, Müsevitoğlu A. Frequency of congenital hypothyroidism in neonates in the Konya region, Turkey. J Pediatr Endocrinol Metab. 2011;24(3-4): 139-40. doi: 10.1515/jpem.2011.078. PMID: 21648280.
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ESPE Yearbook of Paediatric Endocrinology
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