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ey0018.7-1 | Clinical Guidance | ESPEYB18

7.1. Cranial MRI abnormalities and long-term follow-up of the lesions in 770 girls with central precocious puberty

D Helvacıoğlu , S Demircioğlu Turan , T Guran , Z Atay , A Dağcınar , D Bezen , E Karakılıc Ozturan , F Darendeliler , A Yuksel , F Dursun , S Kılınc , S Semiz , S Abalı , M Yıldız , A Onder , A Bereket

J Clin Endocrinol Metab. 2021 Mar 25:dgab190. doi: 10.1210/clinem/dgab190. PMID: 33765130. https://academic.oup.com/jcem/article-abstract/106/7/e2557/6188450?redirectedFrom=fulltextIn brief: This multicentre cohort study explores the frequency, long-term outcomes and potential p...

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ey0019.1-2 | Basic Science and Stem Cells | ESPEYB19

1.2. Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits

MC Pahl , CA Doege , KM Hodge , SH Littleton , ME Leonard , S Lu , R Rausch , JA Pippin , MC De Rosa , A Basak , JP Bradfield , RK Hammond , K Boehm , RI Berkowitz , C Lasconi , C Su , A Chesi , ME Johnson , AD Wells , BF Voight , RL Leibel , DL Cousminer , SFA Grant

Nat Commun. 2021 Nov 19;12(1):6749. doi: 10.1038/s41467-021-27001-4. PMID: 34799566.Brief Summary: The authors used RNA-seq, ATAC-seq, and promoter-focused Capture C to characterize the genetic architecture during hypothalamic differentiation. This information provides insights into mechanisms by which noncoding GWAS loci are associated with hypothalamic-regulated traits potentially mediat...

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ey0021.13-9 | Endocrinology | ESPEYB21

13.9. 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

Z Siklar , E Camtosun , S Bolu , M Yildiz , A Akinci , F Bas , İ Dundar , A Bestas , E Unal , P Kocaay , T Guran , G Buyukyilmaz , AK Ugurlu , BG Tosun , I Turan , E Kurnaz , B Yuksel , D Turkkahraman , A Cayir , G Celmeli , EN Gonc , BS Eklioğlu , S Cetinkaya , SK Yilmaz , ME Atabek , M Buyukinan , E Arslan , E Mengen , EDP Cakir , M Karaoglan , N Hatipoglu , Z Orbak , A Ucar , N Akyurek , ED Akbas , E Isik , SB Kaygusuz , ZK Sutcu , G Seymen , M Berberoglu

Brief Summary: This retrospective cohort study analyzed data from 97 cases of 17α hydroxylase/17,20 lyase deficiency identified in Turkey. It focused on diagnostic testing, laboratory characteristics, long-term outcomes and therapeutic management.This nationwide study focuses on 17α-Hydroxylase/17,20-Lyase deficiency (17OHD), a rare form of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene. The research aims to evalua...

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ESPE Yearbook of Paediatric Endocrinology

7.1. Cranial MRI abnormalities and long-term follow-up of the lesions in 770 girls with central precocious puberty

1.2. Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits

13.9. 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

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