Abstract Search

ey0019.6-5 | Basic and Genetic Research of DSD | ESPEYB19

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

D Cicek , N Warr , G Yesil , Eker H Kocak , F Bas , S Poyrazoglu , F Darendeliler , G Direk , N Hatipoglu , M Eltan , Abali Z Yavas , Tosun B Gurpinar , SB Kaygusuz , Menevse T Seven , D Helvacioglu , S Turan , A Bereket , R Reeves , M Simon , M Mackenzie , L Teboul , A Greenfield , T Guran

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 19 cases per 100,000 live-births. GD can be classified as either complete...

0 shares

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 ...

0 shares

ESPE Yearbook of Paediatric Endocrinology

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

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

BiosciAbstracts