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This year my team in Bern (Philipp Augsburger, Claudia Böttcher, Therina du Toit, Marco Janner, Chrysanthi Kouri, Idoia Martinez de LaPiscina, Rawda NaAmneh Elzenaty, Anne Smit, Isabel Sousa Barata, Jibira Yakubu) and the YES member, Simge Eren, Şişli Hamidiye Etfal Training and Research Hospital, Pediatric Endocrinology Department, Istanbul participated in choosing the articles you will find in this Chapter....

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ey0016.3-11 | New Genes | ESPEYB16

3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

H Cangul , XH Liao , E Schoenmakers , J Kero , S Barone , P Srichomkwun , H Iwayama , EG Serra , H Saglam , E Eren , O Tarim , AK Nicholas , I Zvetkova , CA Anderson , FEK Frankl , K Boelaert , M Ojaniemi , J Jaaskelainen , K Patyra , C Lof , ED Williams , Consortium UK10K , M Soleimani , T Barrett , ER Maher , VK Chatterjee , S Refetoff , N Schoenmakers

To read the full abstract: JCI Insight. 2018 Oct 18;3(20). pii: 99631.This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new f...

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ey0021.13-12 | Endocrinology | ESPEYB21

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

Y Ozer , A Anık , U Sayılı , U Tercan , R Deveci Sevim , S Guneş , Pirimoğlu M Buhur , S Elmaoğulları , I Dundar , D Okdemir , O Besci , A Jalilova , D Cicek , B Singin , ŞE Ulu , H Turan , S Albayrak , Sutcu Z Kocabey , BS Eklioğlu , E Eren , S Cetinkaya , Ş Savaş-Erdeve , I Esen , K Demir , Ş Darcan , N Hatipoğlu , M Parlak , F Dursun , Z Şıklar , M Berberoğlu , M Keskin , Z Orbak , B Tezel , E Yuruker , B Keskinkılıc , F Kara , E Erginoz , F Darendeliler , O Evliyaoğlu

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 ...

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ESPE Yearbook of Paediatric Endocrinology

14. The Year in Science and Medicine

3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

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

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