ISSN 1662-4009 (online)

ey0020.9-9 | Genetic Obesity and Genetic Risk Score | ESPEYB20

9.9. Genetic risk score enhances the risk prediction of severe obesity in adult survivors of childhood cancer

Y Sapkota , W Qiu , SB Dixon , CL Wilson , Z Wang , J Zhang , W Leisenring , EJ Chow , S Bhatia , GT Armstrong , LL Robison , MM Hudson , A Delaney , Y Yasui

Brief summary: This study evaluated the ability of genetic risk scores to predict severe obesity in adult survivors of childhood cancer. Data from 2548 survivors of European ancestry from the St. Jude Lifetime Cohort Study was analyzed and findings were validated in 6064 survivors from the Childhood Cancer Survivor Study. Survivors with higher genetic risk scores had significantly higher odds of severe obesity. Adding genetic risk scores to prediction models that included canc...

ey0020.11-15 | Endocrinology | ESPEYB20

11.15. Genotype, mortality, morbidity, and outcomes of 3[beta]-hydroxysteroid dehydrogenase deficiency in Algeria

A Ladjouze , M Donaldson , I Plotton , N Djenane , K Mohammedi , V Tardy-Guidollet , D Mallet , K Boulesnane , Z Bouzerar , Y Morel , F Roucher-Boulez

Brief summary: This study describes the genetic and clinical characteristics of 3βHSD2 deficiency in children seen at a single center in Algeria. It describes clinical outcomes, including the frequency of adrenal rest tumors in this population.3β-hydroxysteroid dehydrogenase 2 deficiency (3βHSD2) is a rare form of congenital adrenal hyperplasia. This mixed longitudinal and cross-sectional study was performed in a single Algerian center bet...

ey0021.9-2 | Fertility Issues | ESPEYB21

9.2. Effects of radiation therapy on the female reproductive tract in childhood cancer survivors: a PENTEC comprehensive review

C Hill-Kayser , E Yorke , A Jackson , C Gracia , J Ginsberg , K Keene , C Ronckers , ML Metzger , Z Li , LS Constine , CH Hua

Brief Summary: This paper reviewed the toxicity of radiation therapy (RT) on ovarian, uterine and vaginal tissue in childhood cancer survivors (CCSs), using data published from 1970 to 2017. Overall, 11 studies reported data on ovarian damage, 8 on uterine volume related to treatment, and 3 on vaginal effects. Most studies did not report accurate dosimetric data and dose-volume relationships, and the confounder role of chemotherapy was not considered. In general, published dat...

ey0021.15-3 | New Treatments | ESPEYB21

15.3. Triple-hormone-receptor agonist retatrutide for obesity - a phase 2 trial

AM Jastreboff , LM Kaplan , JP Frias , Q Wu , Y Du , S Gurbuz , T Coskun , A Haupt , Z Milicevic , ML Hartman , for the Retatrutide Phase 2 Obesity Trial Investigators.

In Brief: This phase 2 trial randomized 338 adults with overweight or obesity to once-weekly subcutaneous Retatrutide (LY3437943), a ‘triple agonist’ for glucose-dependent insulinotropic polypeptide (GIP), glucagon-like peptide 1 (GLP1), and glucagon receptors, or placebo. Mean % change in body weight at 24 weeks was −7.2%, −12.9%, −17.3% and −17.5% in the 1-mg, 4-mg, 8-mg and 12-mg Retatrutide groups, compared with −1.6% in the placebo ...

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...

ey0020.8-12 | New Mechanisms | ESPEYB20

8.12. ZnT8 loss-of-function accelerates functional maturation of hESC-derived beta cells and resists metabolic stress in diabetes

Q Ma , Y Xiao , W Xu , M Wang , S Li , Z Yang , M Xu , T Zhang , ZN Zhang , R Hu , Q Su , F Yuan , T Xiao , X Wang , Q He , J Zhao , ZJ Chen , Z Sheng , M Chai , H Wang , W Shi , Q Deng , X Cheng , W Li

Brief summary: In this experimental study, genome editing and in vitro pancreatic differentiation of human pluripotent stem cells (SC) were used to generate ZNT8 loss-of-function (LOF) SC-β-cells. These cells showed accelerated functional maturation, increased insulin secretion and improved resistance to metabolic stress. Transplantation of ZnT8 LOF SC-β-cells into mice with preexisting diabetes significantly improved their glucose levels.<...

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 ...

ey0018.12-6 | Type 2 Diabetes | ESPEYB18

12.6. Adolescent BMI and early-onset type 2 diabetes among Ethiopian immigrants and their descendants: a nationwide study

M Simchoni , U Hamiel , O Pinhas-Hamiel , I Zucker , T Cukierman-Yaffe , M Lutski , E Derazne , Z Beer , D Behar , L Keinan-Boker , O Mosenzon , D Tzur , A Afek , A Tirosh , I Raz , G Twig

Cardiovasc Diabetol. 2020 Oct 6;19(1):168. 10.1186/s12933-020-01143-z. PMID: 33023586.In brief: The impact of immigration on the risk of early-onset T2DM (before age 40 years) was assessed in a nationwide cohort. Data on 93 806 native Israelis and 27 684 Israelis of Ethiopian origin, assessed at a mean age 17.5 years, were linked to the Israeli National Diabetes Registry. After adjustment fo...

ey0018.12-10 | Metabolic Syndrome | ESPEYB18

12.10. Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities

LO Huang , A Rauch , E Mazzaferro , M Preuss , S Carobbio , CS Bayrak , N Chami , Z Wang , UM Schick , N Yang , Y Itan , A Vidal-Puig , M den Hoed , S Mandrup , TO Kilpelainen , RJF Loos

Nat Metab. 2021 Feb;3(2):228–243. doi: 10.1038/s42255-021-00346-2. PMID: 33619380.In brief: In this genome-wide association study, the authors were able to disentangle the mechanism that uncouples adiposity from its known cardiometabolic complications. They identified 62 genomic loci, at which the same allele is associated with both higher adiposity and lower cardiometabol...

ey0019.3-14 | Paediatric thyroid cancer | ESPEYB19

3.14. Fusion oncogenes are associated with increased metastatic capacity and persistent disease in pediatric thyroid cancers

AT Franco , JC Ricarte-Filho , A Isaza , Z Jones , N Jain , S Mostoufi-Moab , L Surrey , TW Laetsch , MM Li , JC DeHart , E Reichenberger , D Taylor , K Kazahaya , NS Adzick , AJ Bauer

J Clin Oncol. 2022 Apr 1;40(10):1081-1090. doi: 10.1200/JCO.21.01861. Epub 2022 Jan 11. PMID: 35015563Brief Summary: This retrospective monocenter study of clinical, pathological and molecular analysis of n=113 children with differentiated thyroid cancer (DTC) showed that genetic analysis of DTC provided more accurate information on prognosis and outcome than classical histological categorizatio...